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Sample records for syndrome case definitions

  1. Surveillance case definitions for work related upper limb pain syndromes

    OpenAIRE

    Harrington, J. M.; Carter, J. T.; Birrell, L.; Gompertz, D.

    1998-01-01

    OBJECTIVES: To establish consensus case definitions for several common work related upper limb pain syndromes for use in surveillance or studies of the aetiology of these conditions. METHODS: A group of healthcare professionals from the disciplines interested in the prevention and management of upper limb disorders were recruited for a Delphi exercise. A questionnaire was used to establish case definitions from the participants, followed by a consensus conference involving the core grou...

  2. Hantavirus pulmonary syndrome clinical findings: evaluating a surveillance case definition.

    Science.gov (United States)

    Knust, Barbara; Macneil, Adam; Rollin, Pierre E

    2012-05-01

    Clinical cases of hantavirus pulmonary syndrome (HPS) can be challenging to differentiate from other acute respiratory diseases, which can lead to delays in diagnosis, treatment, and disease reporting. Rapid onset of severe disease occurs, at times before diagnostic test results are available. This study's objective was to examine the clinical characteristics of patients that would indicate HPS to aid in detection and reporting. Test results of blood samples from U.S. patients suspected of having HPS submitted to the Centers for Disease Control and Prevention from 1998-2010 were reviewed. Patient information collected by case report forms was compared between HPS-confirmed and test-negative patients. Diagnostic sensitivity, specificity, predictive values, and likelihood ratios were calculated for individual clinical findings and combinations of variables. Of 567 patients included, 36% were HPS-confirmed. Thrombocytopenia, chest x-rays with suggestive signs, and receiving supplemental oxygenation were highly sensitive (>95%), while elevated hematocrit was highly specific (83%) in detecting HPS. Combinations that maximized sensitivity required the presence of thrombocytopenia. Using a national sample of suspect patients, we found that thrombocytopenia was a highly sensitive indicator of HPS and should be included in surveillance definitions for suspected HPS. Using a sensitive suspect case definition to identify potential HPS patients that are confirmed by highly specific diagnostic testing will ensure accurate reporting of this disease.

  3. Evaluation of the Components of the North Carolina Syndromic Surveillance System Heat Syndrome Case Definition.

    Science.gov (United States)

    Harduar Morano, Laurel; Waller, Anna E

    To improve heat-related illness surveillance, we evaluated and refined North Carolina's heat syndrome case definition. We analyzed North Carolina emergency department (ED) visits during 2012-2014. We evaluated the current heat syndrome case definition (ie, keywords in chief complaint/triage notes or International Classification of Diseases, Ninth Revision, Clinical Modification [ ICD-9-CM] codes) and additional heat-related inclusion and exclusion keywords. We calculated the positive predictive value and sensitivity of keyword-identified ED visits and manually reviewed ED visits to identify true positives and false positives. The current heat syndrome case definition identified 8928 ED visits; additional inclusion keywords identified another 598 ED visits. Of 4006 keyword-identified ED visits, 3216 (80.3%) were captured by 4 phrases: "heat ex" (n = 1674, 41.8%), "overheat" (n = 646, 16.1%), "too hot" (n = 594, 14.8%), and "heatstroke" (n = 302, 7.5%). Among the 267 ED visits identified by keyword only, a burn diagnosis or the following keywords resulted in a false-positive rate >95%: "burn," "grease," "liquid," "oil," "radiator," "antifreeze," "hot tub," "hot spring," and "sauna." After applying the revised inclusion and exclusion criteria, we identified 9132 heat-related ED visits: 2157 by keyword only, 5493 by ICD-9-CM code only, and 1482 by both (sensitivity = 27.0%, positive predictive value = 40.7%). Cases identified by keywords were strongly correlated with cases identified by ICD-9-CM codes (rho = .94, P definition through the use of additional inclusion and exclusion criteria substantially improved the accuracy of the surveillance system. Other jurisdictions may benefit from refining their heat syndrome case definition.

  4. A Case Definition for Children with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome

    OpenAIRE

    Leonard A. Jason; Nicole Porter; Elizabeth Shelleby; David S. Bell; Charles W. Lapp; Kathy Rowe; Kenny De Meirleir

    2008-01-01

    The case definition for chronic fatigue syndrome was developed for adults (Fukuda et al. 1994), and this case definition may not be appropriate for use with children and adolescents. The lack of application of a consistent pediatric definition for this illness and the lack of a reliable instrument to assess it might lead to studies which lack sensitivity and specificity. In this article, a case definition is presented that has been endorsed by the International Association of ME/CFS.

  5. Validation of a Syndromic Case Definition for Detecting Emergency Department Visits Potentially Related to Marijuana.

    Science.gov (United States)

    DeYoung, Kathryn; Chen, Yushiuan; Beum, Robert; Askenazi, Michele; Zimmerman, Cali; Davidson, Arthur J

    Reliable methods are needed to monitor the public health impact of changing laws and perceptions about marijuana. Structured and free-text emergency department (ED) visit data offer an opportunity to monitor the impact of these changes in near-real time. Our objectives were to (1) generate and validate a syndromic case definition for ED visits potentially related to marijuana and (2) describe a method for doing so that was less resource intensive than traditional methods. We developed a syndromic case definition for ED visits potentially related to marijuana, applied it to BioSense 2.0 data from 15 hospitals in the Denver, Colorado, metropolitan area for the period September through October 2015, and manually reviewed each case to determine true positives and false positives. We used the number of visits identified by and the positive predictive value (PPV) for each search term and field to refine the definition for the second round of validation on data from February through March 2016. Of 126 646 ED visits during the first period, terms in 524 ED visit records matched ≥1 search term in the initial case definition (PPV, 92.7%). Of 140 932 ED visits during the second period, terms in 698 ED visit records matched ≥1 search term in the revised case definition (PPV, 95.7%). After another revision, the final case definition contained 6 keywords for marijuana or derivatives and 5 diagnosis codes for cannabis use, abuse, dependence, poisoning, and lung disease. Our syndromic case definition and validation method for ED visits potentially related to marijuana could be used by other public health jurisdictions to monitor local trends and for other emerging concerns.

  6. Validation of a published case definition for tuberculosis-associated immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Haddow, Lewis J; Moosa, Mahomed-Yunus S; Easterbrook, Philippa J

    2010-01-02

    To evaluate the International Network for the Study of HIV-associated IRIS (INSHI) case definitions for tuberculosis (TB)-associated immune reconstitution inflammatory syndrome (IRIS) in a South African cohort. Prospective cohort of 498 adult HIV-infected patients initiating antiretroviral therapy. Patients were followed up for 24 weeks and all clinical events were recorded. Events with TB-IRIS as possible cause were assessed by consensus expert opinion and INSHI case definition. Positive, negative, and chance-corrected agreement (kappa) were calculated, and reasons for disagreement were assessed. One hundred and two (20%) patients were receiving TB therapy at antiretroviral therapy initiation. Three hundred and thirty-three events were evaluated (74 potential paradoxical IRIS, 259 potential unmasking IRIS). Based on expert opinion, there were 18 cases of paradoxical IRIS associated with TB and/or other opportunistic disease. The INSHI criteria for TB-IRIS agreed in 13 paradoxical cases, giving positive agreement of 72.2%, negative agreement in 52/56 non-TB-IRIS events (92.9%), and kappa of 0.66. There were 19 unmasking TB-IRIS cases based on expert opinion, of which 12 were considered IRIS using the INSHI definition (positive agreement 63.2%). There was agreement in all 240 non-TB-IRIS events (negative agreement 100%) and kappa was 0.76. There was good agreement between the INSHI case definition for both paradoxical and unmasking TB-IRIS and consensus expert opinion. These results support the use of this definition in clinical and research practice, with minor caveats in its application.

  7. Clinical Criteria Versus a Possible Research Case Definition in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis.

    Science.gov (United States)

    Jason, Leonard A; McManimen, Stephanie; Sunnquist, Madison; Newton, Julia L; Strand, Elin Bolle

    2017-01-01

    The Institute of Medicine (IOM) recently developed clinical criteria for what had been known as chronic fatigue syndrome (CFS). Given the broad nature of the clinical IOM criteria, there is a need for a research definition that would select a more homogenous and impaired group of patients than the IOM clinical criteria. At the present time, it is unclear what will serve as the research definition. The current study focused on a research definition which selected homebound individuals who met the four IOM criteria, excluding medical and psychiatric co-morbidities. Our research criteria were compared to those participants meeting the IOM criteria. Those not meeting either of these criteria sets were placed in a separate group defined by 6 or more months of fatigue. Data analyzed were from the DePaul Symptom Questionnaire and the SF-36. Due to unequal sample sizes and variances, Welch's F tests and Games-Howell post hoc tests were conducted. Using a large database of over 1,000 patients from several countries, we found that those meeting a more restrictive research definition were even more impaired and more symptomatic than those meeting criteria for the other two groups. Deciding on a particular research case definition would allow researchers to select more comparable patient samples across settings, and this would represent one of the most significant methodologic advances for this field of study.

  8. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  9. Development of a foundation for a case definition of post-treatment Lyme disease syndrome.

    Science.gov (United States)

    Aucott, John N; Crowder, Lauren A; Kortte, Kathleen B

    2013-06-01

    The study objective is to demonstrate the clinical and research utility of an operationalized definition of post-treatment Lyme disease syndrome (PTLDS), as proposed by the Infectious Diseases Society of America. Seventy-four patients with confirmed erythema migrans and 14 controls were enrolled. Patient-reported symptoms and health function (SF-36) were collected pre-treatment and at follow-up visits over 6 months post-treatment. Eight (11%) patients met our operationalized definition of PTLDS, which included self-reported symptoms of fatigue, widespread musculoskeletal pain or cognitive complaints, and functional impact as measured by a T score of definition of PTLDS allows for identification of those patients who are treated for early Lyme disease and have significant post-treatment illness, as they have both residual symptoms and impact on daily life functioning. With further refinement and improvement of this operationalized definition, the true incidence of PTLDS can be determined and future studies can be designed to examine its pathophysiology and treatment. Copyright © 2013 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  10. Clinical case definition and manifestations of paradoxical tuberculosis-associated immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Manosuthi, Weerawat; Van Tieu, Hong; Mankatitham, Wiroj; Lueangniyomkul, Aroon; Ananworanich, Jintanat; Avihingsanon, Anchalee; Siangphoe, Umaporn; Klongugkara, Sukonsri; Likanonsakul, Sirirat; Thawornwan, Unchana; Suntisuklappon, Bussakorn; Sungkanuparph, Somnuek

    2009-11-27

    The International Network for the Study of HIV-associated IRIS (INSHI) recently published criteria for tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) diagnosis. The performance of this definition and clinical manifestations of TB-IRIS were studied. Antiretroviral therapy-naive HIV/TB Thai patients receiving antituberculous therapy were enrolled during 2006-2007 and prospectively followed through 24 weeks of antiretroviral therapy. Patients were defined as having paradoxical TB-IRIS if they fulfilled the 'study definition' by French 2004 and were confirmed by an external reviewer. All were later compared by the classification according to 'INSHI-2008'. For the 126 patients, median baseline CD4 cell count was 43 cells/microl and HIV-1 RNA was 5.9 log(10) Y copies/ml. Seventy-three (58%) had extrapulmonary/disseminated TB. Twenty-two (18%) and 21 (17%) fulfilled TB-IRIS criteria according to the study definition and INSHI-2008 definition, respectively. Two (2%) were diagnosed by study definition only and one (1%) by INSHI-2008 definition only. Twenty (16%) were concordantly diagnosed by both definitions and 103 (82%) were consistently negative. Eighteen (82%) had worsening of a preexisting site, whereas four (18%) had TB-IRIS in a new location. Lymph node enlargement (73%) and fever (59%) were common in TB-IRIS. Sensitivity and specificity of INSHI-2008 was 91% (95% confidence interval, 72-98%) and 99% (95% confidence interval, 95-99.8%), respectively. Positive predictive value was 95% and negative predictive value was 98%. By multivariate analysis, factors predicting TB-IRIS were extrapulmonary TB (odds ratio, 8.63) and disseminated TB (odds ratio, 4.17). There was high concordance between the INSHI-2008 and French 2004 definition for TB-IRIS diagnosis in HIV/TB patients with relatively high rate of paradoxical TB-IRIS. This suggests that lack of HIV-1 RNA and CD4 cell count monitoring does not impede the ability to diagnose TB-IRIS.

  11. Invasive liver abscess syndrome caused by Klebsiella pneumoniae with definite K2 serotyping in Japan: a case report.

    Science.gov (United States)

    Seo, Ryota; Kudo, Daisuke; Gu, Yoshiaki; Yano, Hisakazu; Aoyagi, Tetsuji; Omura, Taku; Irino, Shigemi; Kaku, Mitsuo; Kushimoto, Shigeki

    2016-12-01

    Klebsiella pneumonia is a well-known human pathogen, and recently, a distinct invasive syndrome caused by K. pneumoniae serotypes K1 and K2 has been recognized in Southeast Asia. This syndrome is characterized by primary liver abscess and extrahepatic complications resulting from bacteremic dissemination. We report the first adult case of primary liver abscess caused by the definite K2 serotyped pathogen, with endogenous endophthalmitis in Japan. A 64-year-old woman was admitted to a nearby hospital for a high fever and diarrhea. She had visual loss of her right eye, renal dysfunction, and thrombocytopenia within 24 h from admission. She was transferred to our institution. On admission, she had no alteration of mental status and normal vital signs; however, she had almost complete ablepsia of the right eye. Laboratory data showed severe inflammation, liver dysfunction, thrombocytopenia, an increased serum creatinine level, and coagulopathy. Computed tomography showed a low density area in the right lobe of the liver. Invasive liver abscess syndrome probably caused by K. pneumonia was highly suspected and immediately administered broad-spectrum antibiotics for severe sepsis. Concurrently, endogenous endophthalmitis was diagnosed, and we performed vitrectomy on the day of admission. The blood culture showed K. pneumoniae infection. Percutaneous drainage of the liver abscess was also performed. Although she was discharged in a good general condition on day 22, she had complete ablepsia of the right eye. The K2A gene was detected by polymerase chain reaction (PCR), which is consistent with the K2 serotype. PCR was also positive for the virulence-associated gene rmpA. Final diagnosis was invasive liver abscess syndrome caused by K2 serotype K. pneumonia. Although the primary liver abscess caused by K. pneumoniae with a hypermucoviscous phenotype is infrequently reported outside Southeast Asia, physicians should recognize this syndrome, and appropriate diagnosis and

  12. Methods of applying the 1994 case definition of chronic fatigue syndrome - impact on classification and observed illness characteristics.

    Science.gov (United States)

    Unger, E R; Lin, J-M S; Tian, H; Gurbaxani, B M; Boneva, R S; Jones, J F

    2016-01-01

    Multiple case definitions are in use to identify chronic fatigue syndrome (CFS). Even when using the same definition, methods used to apply definitional criteria may affect results. The Centers for Disease Control and Prevention (CDC) conducted two population-based studies estimating CFS prevalence using the 1994 case definition; one relied on direct questions for criteria of fatigue, functional impairment and symptoms (1997 Wichita; Method 1), and the other used subscale score thresholds of standardized questionnaires for criteria (2004 Georgia; Method 2). Compared to previous reports the 2004 CFS prevalence estimate was higher, raising questions about whether changes in the method of operationalizing affected this and illness characteristics. The follow-up of the Georgia cohort allowed direct comparison of both methods of applying the 1994 case definition. Of 1961 participants (53 % of eligible) who completed the detailed telephone interview, 919 (47 %) were eligible for and 751 (81 %) underwent clinical evaluation including medical/psychiatric evaluations. Data from the 499 individuals with complete data and without exclusionary conditions was available for this analysis. A total of 86 participants were classified as CFS by one or both methods; 44 cases identified by both methods, 15 only identified by Method 1, and 27 only identified by Method 2 (Kappa 0.63; 95 % confidence interval [CI]: 0.53, 0.73 and concordance 91.59 %). The CFS group identified by both methods were more fatigued, had worse functioning, and more symptoms than those identified by only one method. Moderate to severe depression was noted in only one individual who was classified as CFS by both methods. When comparing the CFS groups identified by only one method, those only identified by Method 2 were either similar to or more severely affected in fatigue, function, and symptoms than those only identified by Method 1. The two methods demonstrated substantial concordance. While Method 2

  13. Relationship between autonomic cardiovascular control, case definition, clinical symptoms, and functional disability in adolescent chronic fatigue syndrome: an exploratory study.

    Science.gov (United States)

    Wyller, Vegard B; Helland, Ingrid B

    2013-02-07

    Chronic Fatigue Syndrome (CFS) is characterized by severe impairment and multiple symptoms. Autonomic dysregulation has been demonstrated in several studies. We aimed at exploring the relationship between indices of autonomic cardiovascular control, the case definition from Centers for Disease Control and Prevention (CDC criteria), important clinical symptoms, and disability in adolescent chronic fatigue syndrome. 38 CFS patients aged 12-18 years were recruited according to a wide case definition (ie. not requiring accompanying symptoms) and subjected to head-up tilt test (HUT) and a questionnaire. The relationships between variables were explored with multiple linear regression analyses. In the final models, disability was positively associated with symptoms of cognitive impairments (p<0.001), hypersensitivity (p<0.001), fatigue (p=0.003) and age (p=0.007). Symptoms of cognitive impairments were associated with age (p=0.002), heart rate (HR) at baseline (p=0.01), and HR response during HUT (p=0.02). Hypersensitivity was associated with HR response during HUT (p=0.001), high-frequency variability of heart rate (HF-RRI) at baseline (p=0.05), and adherence to the CDC criteria (p=0.005). Fatigue was associated with gender (p=0.007) and adherence to the CDC criteria (p=0.04). In conclusion, a) The disability of CFS patients is not only related to fatigue but to other symptoms as well; b) Altered cardiovascular autonomic control is associated with certain symptoms; c) The CDC criteria are poorly associated with disability, symptoms, and indices of altered autonomic nervous activity.

  14. Influence of case definition on incidence and outcome of acute coronary syndromes.

    Science.gov (United States)

    Torabi, Azam; Cleland, John G F; Sherwi, Nasser; Atkin, Paul; Panahi, Hossein; Kilpatrick, Eric; Thackray, Simon; Hoye, Angela; Alamgir, Farqad; Goode, Kevin; Rigby, Alan; Clark, Andrew L

    2016-01-01

    Acute coronary syndromes (ACS) are common, but their incidence and outcome might depend greatly on how data are collected. We compared case ascertainment rates for ACS and myocardial infarction (MI) in a single institution using several different strategies. The Hull and East Yorkshire Hospitals serve a population of ∼560 000. Patients admitted with ACS to cardiology or general medical wards were identified prospectively by trained nurses during 2005. Patients with a death or discharge code of MI were also identified by the hospital information department and, independently, from Myocardial Infarction National Audit Project (MINAP) records. The hospital laboratory identified all patients with an elevated serum troponin-T (TnT) by contemporary criteria (>0.03 µg/L in 2005). The prospective survey identified 1731 admissions (1439 patients) with ACS, including 764 admissions (704 patients) with MIs. The hospital information department reported only 552 admissions (544 patients) with MI and only 206 admissions (203 patients) were reported to the MINAP. Using all 3 strategies, 934 admissions (873 patients) for MI were identified, for which TnT was >1 µg/L in 443, 0.04-1.0 µg/L in 435, ≤0.03 µg/L in 19 and not recorded in 37. A further 823 patients had TnT >0.03 µg/L, but did not have ACS ascertained by any survey method. Of the 873 patients with MI, 146 (16.7%) died during admission and 218 (25.0%) by 1 year, but ranging from 9% for patients enrolled in the MINAP to 27% for those identified by the hospital information department. MINAP and hospital statistics grossly underestimated the incidence of MI managed by our hospital. The 1-year mortality was highly dependent on the method of ascertainment.

  15. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  16. Guillain-Barré syndrome following receipt of influenza A (H1N1) 2009 monovalent vaccine in Korea with an emphasis on Brighton Collaboration case definition.

    Science.gov (United States)

    Choe, Young June; Cho, Heeyeon; Bae, Geun-Ryang; Lee, Jong-Koo

    2011-03-03

    In 2009-2010 season, with ongoing of influenza A (H1N1), employment of mass vaccination has generated concerns in issue of adverse events following immunization (AEFI). This study investigates the clinical and laboratory data of reported cases of Guillain-Barré syndrome (GBS) and Fisher syndrome (FS) following receipt of influenza A (H1N1) 2009 monovalent vaccine to the National Vaccine Injury Compensation Program (NVICP) in Korea, with all cases reviewed under case definition developed by Brighton Collaboration GBS Working Group. Retrospective review of medical records for all suspected cases of GBS ad FS following receipt of influenza A (H1N1) monovalent vaccine reported to NVICP from December 1, 2009, through April 28, 2010 was conducted. Additional analyses were performed for identification of levels of diagnostic certainty according to Brighton Collaboration case definition. Of 29 reported cases, 22 were confirmed to meet Brighton criteria level 1, 2, or 3 for GBS (21) or FS (1). Of those, 2 (9.1%) met level 1, 9 (40.9%) met level 2, and 11 (50.0%) met level 3. The male to female ratio was 2:0 in cases with level 1, 8:1 in cases with level 2, and 3:8 in cases with level 3. The mean age was older in cases with level 1 (54.0 ± 26.9) than that of cases with level 2 (25.6 ± 22.8), and level 3 (13.6 ± 2.4, P=0.005). The median onset interval was longer in cases with level 1 (16 days) than that of cases that met level 2 (12.44 days), and 3 (1.09 days, P=0.019). The Brighton case definition was used to improve the quality of AEFI data in Korea, and was applicable in retrospective review of medical records in cases with GBS and FS after influenza A (H1N1) vaccination. These findings suggest that standardized case definition was feasible in clarifying the AEFI data, and to further increase the understanding of possible relationship of influenza vaccine and GBS. Copyright © 2011 Elsevier Ltd. All rights reserved.

  17. Metabolic syndrome: definitions and controversies

    Directory of Open Access Journals (Sweden)

    Kaltsas Gregory

    2011-05-01

    Full Text Available Abstract Metabolic syndrome (MetS is a complex disorder defined by a cluster of interconnected factors that increase the risk of cardiovascular atherosclerotic diseases and diabetes mellitus type 2. Currently, several different definitions of MetS exist, causing substantial confusion as to whether they identify the same individuals or represent a surrogate of risk factors. Recently, a number of other factors besides those traditionally used to define MetS that are also linked to the syndrome have been identified. In this review, we critically consider existing definitions and evolving information, and conclude that there is still a need to develop uniform criteria to define MetS, so as to enable comparisons between different studies and to better identify patients at risk. As the application of the MetS model has not been fully validated in children and adolescents as yet, and because of its alarmingly increasing prevalence in this population, we suggest that diagnosis, prevention and treatment in this age group should better focus on established risk factors rather than the diagnosis of MetS.

  18. Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

    Science.gov (United States)

    Kluk, Michael Joseph; An, Yu; James, Philip; Coulter, David; Harris, David; Wu, Bai-Lin; Shen, Yiping

    2011-05-01

    The molecular testing options available for the diagnosis of genetic disorders are numerous and include a variety of different assay platforms. The consultative input of molecular pathologists and cytogeneticists, working closely with the ordering clinicians, is often important for definitive diagnosis. Herein, we describe two patients who had long histories of unexplained signs and symptoms with a high clinical suspicion of an underlying genetic etiology. Initial molecular testing in both cases was negative, but the application of high-resolution array comparative genomic hybridization technology lead to definitive diagnosis in both cases. We summarize the clinical findings and molecular testing in each case, discuss the differential diagnoses, and review the clinical and pathological findings of Mowat-Wilson syndrome. This report highlights the importance for those involved in molecular testing to know the nature of the underlying genetic abnormalities associated with the suspected diagnosis, to recognize the limitations of each testing platform, and to persistently pursue repeat testing using high-resolution technologies when indicated. This concept is applicable to both germline and somatic molecular genetic testing. Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  19. Mills’ syndrome: case report

    OpenAIRE

    Henrique de Gobbi Porto, Fábio; Orsini, Marco; Antônio Araújo Leite, Marco; Moreira dos Santos, José; Pulier, Soraia; Mello, Mariana; Nascimento, Osvaldo J.M.

    2009-01-01

    The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical ...

  20. Lowe syndrome: case report

    Directory of Open Access Journals (Sweden)

    Eva Bahor

    2018-03-01

    Full Text Available Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.

  1. Boerhaave syndrome - case report

    Directory of Open Access Journals (Sweden)

    Biljana Radovanovic Dinic

    Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

  2. Case report: waardenburg syndrome.

    Science.gov (United States)

    Dumayas, Grace Lea; Capó-Aponte, José E

    2015-03-01

    A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

  3. Wolfram Syndrome. Case report.

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    Tarała, Wojciech; Drachal, Elzbieta; Mazur, Artur; Korczowski, Bartosz; Szadkowska, Agnieszka; Zmysłowska, Agnieszka; Młynarski, Wojciech

    2016-01-01

    Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life. © Polish Society for Pediatric Endocrinology and Diabetology.

  4. The definition of the Brugada syndrome.

    Science.gov (United States)

    Sieira, Juan; Brugada, Pedro

    2017-10-21

    Brugada syndrome (BS) is an inherited disease characterized by a coved-type ST-segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD), in the absence of structural abnormalities. The cornerstone of BS diagnosis and definition, is its characteristic ECG pattern that can be present spontaneously or unmasked by drugs. Brugada syndrome was first described 25 years ago; paradoxically, in an era of great technological development, a new syndrome was described with a technology developed almost a century before. Great scientific knowledge has been gathered since the description of the syndrome. The better understanding of its pathophysiology and genetic basis has led to several modifications in its definition. Despite these facts, the essential, the description of the specific ECG pattern has remained almost unchanged since the initial report. In this article, we present the definition of the BS, the rationale behind it and our thoughts about its future. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  5. Hepatopulmonary syndrome: a case report

    NARCIS (Netherlands)

    Huurnink, Arnold

    2015-01-01

    Huurnink A, Van den Berg CHSB, Booij J. Hepatopulmonary syndrome: a case report. Hepatopulmonary syndrome is characterised by a lowered oxygenation caused by intrapulmonary vascular dilatation in the setting of a liver disease. We present a case of a 42-year old woman with a Budd-Chiari syndrome,

  6. Acute respiratory distress syndrome: the Berlin Definition.

    Science.gov (United States)

    Ranieri, V Marco; Rubenfeld, Gordon D; Thompson, B Taylor; Ferguson, Niall D; Caldwell, Ellen; Fan, Eddy; Camporota, Luigi; Slutsky, Arthur S

    2012-06-20

    The acute respiratory distress syndrome (ARDS) was defined in 1994 by the American-European Consensus Conference (AECC); since then, issues regarding the reliability and validity of this definition have emerged. Using a consensus process, a panel of experts convened in 2011 (an initiative of the European Society of Intensive Care Medicine endorsed by the American Thoracic Society and the Society of Critical Care Medicine) developed the Berlin Definition, focusing on feasibility, reliability, validity, and objective evaluation of its performance. A draft definition proposed 3 mutually exclusive categories of ARDS based on degree of hypoxemia: mild (200 mm Hg < PaO2/FIO2 ≤ 300 mm Hg), moderate (100 mm Hg < PaO2/FIO2 ≤ 200 mm Hg), and severe (PaO2/FIO2 ≤ 100 mm Hg) and 4 ancillary variables for severe ARDS: radiographic severity, respiratory system compliance (≤40 mL/cm H2O), positive end-expiratory pressure (≥10 cm H2O), and corrected expired volume per minute (≥10 L/min). The draft Berlin Definition was empirically evaluated using patient-level meta-analysis of 4188 patients with ARDS from 4 multicenter clinical data sets and 269 patients with ARDS from 3 single-center data sets containing physiologic information. The 4 ancillary variables did not contribute to the predictive validity of severe ARDS for mortality and were removed from the definition. Using the Berlin Definition, stages of mild, moderate, and severe ARDS were associated with increased mortality (27%; 95% CI, 24%-30%; 32%; 95% CI, 29%-34%; and 45%; 95% CI, 42%-48%, respectively; P < .001) and increased median duration of mechanical ventilation in survivors (5 days; interquartile [IQR], 2-11; 7 days; IQR, 4-14; and 9 days; IQR, 5-17, respectively; P < .001). Compared with the AECC definition, the final Berlin Definition had better predictive validity for mortality, with an area under the receiver operating curve of 0.577 (95% CI, 0.561-0.593) vs 0.536 (95% CI, 0.520-0.553; P

  7. Developing syndrome definitions based on consensus and current use

    Science.gov (United States)

    Dowling, John N; Baer, Atar; Buckeridge, David L; Cochrane, Dennis; Conway, Michael A; Elkin, Peter; Espino, Jeremy; Gunn, Julia E; Hales, Craig M; Hutwagner, Lori; Keller, Mikaela; Larson, Catherine; Noe, Rebecca; Okhmatovskaia, Anya; Olson, Karen; Paladini, Marc; Scholer, Matthew; Sniegoski, Carol; Thompson, David; Lober, Bill

    2010-01-01

    Objective Standardized surveillance syndromes do not exist but would facilitate sharing data among surveillance systems and comparing the accuracy of existing systems. The objective of this study was to create reference syndrome definitions from a consensus of investigators who currently have or are building syndromic surveillance systems. Design Clinical condition–syndrome pairs were catalogued for 10 surveillance systems across the United States and the representatives of these systems were brought together for a workshop to discuss consensus syndrome definitions. Results Consensus syndrome definitions were generated for the four syndromes monitored by the majority of the 10 participating surveillance systems: Respiratory, gastrointestinal, constitutional, and influenza-like illness (ILI). An important element in coming to consensus quickly was the development of a sensitive and specific definition for respiratory and gastrointestinal syndromes. After the workshop, the definitions were refined and supplemented with keywords and regular expressions, the keywords were mapped to standard vocabularies, and a web ontology language (OWL) ontology was created. Limitations The consensus definitions have not yet been validated through implementation. Conclusion The consensus definitions provide an explicit description of the current state-of-the-art syndromes used in automated surveillance, which can subsequently be systematically evaluated against real data to improve the definitions. The method for creating consensus definitions could be applied to other domains that have diverse existing definitions. PMID:20819870

  8. Apert Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Masoud Gharib

    2012-10-01

    Full Text Available Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. it's incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parent's quality of life.We report a case of Apert syndrome and his occupational therapy program.

  9. Bertolotti's syndrome: a case report.

    Science.gov (United States)

    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  10. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  11. A CASE OF METABOLIC SYNDROME

    OpenAIRE

    Khoo Ee Ming; Rabia Khatoon

    2006-01-01

    This case report illustrates a 40-year-old woman who presented with chest discomfort that was subsequently diagnosed to have metabolic syndrome. Metabolic syndrome is a common condition associated with increased cardiovascular morbidity and mortality. As primary care providers, we should be detect this condition early, intervene and prevent appropriately before complications occur.

  12. Brain-hepato-renal syndrome (Zellweger syndrome). Report of two cases and a review of the syndrome

    International Nuclear Information System (INIS)

    Ruiz, T.; Caparros, C.; Blanco, A.; Lopez, A.M.

    1997-01-01

    Cerebro-hepato-renal syndrome is a rare disorder that is transmitted by autosomal recessive inheritance. Children with this syndrome present mongoloid facies and severe muscle hypotonic at birth. Scimitar-like knee calcifications are considered a pathognomonic feature of this disorder. We present two patients with Zellweger syndrome, according to the diagnosis suggested by our Radiodiagnostic Service. Our objective is to stress the importance of the radiological findings, which in many cases are decisive in establishing the definitive diagnosis. (Author) 10 refs

  13. Rare case of nephrotic syndrome: Schimke syndrome.

    Science.gov (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos

    2016-01-01

    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  14. A Case of Pasqualini Syndrome

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    P.M. Liashuk

    2016-05-01

    Full Text Available The article presents a case of isolated congenital deficiency of luteinizing hormone (Pasqualini syndrome that manifested by secondary hypogonadism with abnormalities of copulative and fertile functions, which were normalized after the treatment using chorionic gonadotropin.

  15. [Two cases of Costello syndrome].

    Science.gov (United States)

    Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

    2003-01-01

    We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.

  16. Definition and epidemiology of acute respiratory distress syndrome.

    Science.gov (United States)

    Rezoagli, Emanuele; Fumagalli, Roberto; Bellani, Giacomo

    2017-07-01

    Fifty years ago, Ashbaugh and colleagues defined for the first time the acute respiratory distress syndrome (ARDS), one among the most challenging clinical condition of the critical care medicine. The scientific community worked over the years to generate a unified definition of ARDS, which saw its revisited version in the Berlin definition, in 2014. Epidemiologic information about ARDS is limited in the era of the new Berlin definition, and wide differences are reported among countries all over the world. Despite decades of study in the field of lung injury, ARDS is still so far under-recognized, with 2 out of 5 cases missed by clinicians. Furthermore, although advances of ventilator strategies in the management of ARDS associated with outcome improvements-such as protective mechanical ventilation, lower driving pressure, higher PEEP levels and prone positioning-ARDS appears to be undertreated and mortality remains elevated up to 40%. In this review, we cover the history that led to the current worldwide accepted Berlin definition of ARDS and we summarize the recent data regarding ARDS epidemiology.

  17. Waardenburg syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Shivlal M Rawlani

    2018-01-01

    Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

  18. Two cases of Cantrell's syndrome

    International Nuclear Information System (INIS)

    Yu, Yun Jeong; Yeon, Kyung Mo

    1982-01-01

    Congenital absence of the lower sternum, defect of the abdominal wall, defects of the anterior diaphragm, pericardial defects and cardiac anomalies had been described as a syndrome by Cantrell et al. Developing mechanism of the syndrome was embryologically defined. These defects arise apparently from combined anomalies of developing of the dorsal mesoderm. The authors present two cases of Cantrell's syndrome developed in one day old and eight months old female patient in which angiocardiography was done at the Department of Radiology, Seoul National University Hospital

  19. [Usher syndrome: about a case].

    Science.gov (United States)

    Daoudi, Chama; Boutimzine, Noureddine; Haouzi, Samia El; Lezrek, Omar; Tachfouti, Samira; Lezrek, Mounir; Laghmari, Mina; Daoudi, Rajae

    2017-01-01

    Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.

  20. Refeeding syndrome: problems with definition and management.

    Science.gov (United States)

    Crook, Martin A

    2014-01-01

    Refeeding syndrome (RFS) broadly encompasses a severe electrolyte disturbance (principally low serum concentrations of intracellular ions such as phosphate, magnesium, and potassium) and metabolic abnormalities in undernourished patients undergoing refeeding whether orally, enterally, or parenterally. RFS reflects the change from catabolic to anabolic metabolism. RFS sometimes is undiagnosed and unfortunately some clinicians remain oblivious to its presence. This is particularly concerning as RFS is a life-threatening condition, although it need not be so and early recognition reduces morbidity and mortality. Careful patient monitoring and multidiscipline nutrition team management may help to achieve this goal. The diagnosis of RFS is not facilitated by the fact that there is no universal agreement as to its definition. The presence of hypophosphatemia alone does not necessarily mean that RFS is present as there are many other causes for this, as discussed later in this article. RFS is increasingly being recognized in neonates and children. An optimal refeeding regimen for RFS is not universally agreed on due to the paucity of randomized controlled trials in the field. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Arteriohepatic Dysplasia (Alagille Syndrome in a Child (Clinical Case

    Directory of Open Access Journals (Sweden)

    Ye.V. Omelchenko

    2015-03-01

    Full Text Available The article presents a clinical case of a child with a rare nosology — Alagille syndrome. Among the causes of neonatal cholestasis, Alagille syndrome is ranked second, it occurs with an incidence of 1 per 70,000 of newborns. This syndrome is characterized by an insufficient number or by a small dia­meter of intrahepatic bile ducts, which carry bile from the liver. Alagille syndrome includes a combination of at least three of the five main symptoms: chronic cholestasis, cardiovascular defects, abnormalities of the spine, eye defects, typical craniofacial signs. The only definitive therapy with the formation of liver cirrhosis and without gross defects is liver transplantation.

  2. Mills’ syndrome: a case report

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    Fábio Henrique de Gobbi Porto

    2009-11-01

    Full Text Available The syndrome of progressive, ascending or descending hemiplegia, with no significant sensory impairment was first describes by Mills in 1900, which several cases were reported later. However after diagnostic tests and image improvements, the number of reports has shortened. A possible explanation for this shortage is the identification of other diseases that could mimic the clinical picture. Currently, the syndrome has an uncertain nosological status, since it was described based on clinical examination only. We can find this clinical presentation (Mills syndrome in cases of amyotrophic lateral sclerosis (ALS, predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS and primary lateral sclerosis (PLS, besides its symptomatic (secondary forms. We describe a case (initial presentation and one year follow-up of progressive ascending hemiplegia with clinical isolated upper neuron signs and normal sensory examination, discussing its nosological status, electromyographic findings, differential diagnosis and prognosis.

  3. Data Mining: Comparing the Empiric CFS to the Canadian ME/CFS Case Definition

    OpenAIRE

    Jason, Leonard A.; Skendrovic, Beth; Furst, Jacob; Brown, Abigail; Weng, Angela; Bronikowski, Christine

    2011-01-01

    This article contrasts two case definitions for Myalgic Encephalomyelitis/chronic fatigue syndrome (ME/CFS). We compared the empiric CFS case definition (Reeves et al., 2005) and the Canadian ME/CFS Clinical case definition (Carruthers et al., 2003) with a sample of individuals with CFS versus those without. Data mining with decision trees was used to identify the best items to identify patients with CFS. Data mining is a statistical technique that was used to help determine which of the surv...

  4. White coat hypertension in definition of metabolic syndrome.

    Science.gov (United States)

    Helvaci, Mehmet Rami; Kaya, Hasan; Seyhanli, Mahmut; Yalcin, Atilla

    2008-07-01

    Although white coat hypertension (WCH) is believed to have an effect on health, there is no term defining WCH in metabolic syndrome. Consecutive patients 20 years old or older who underwent a check-up were included. The study included 1068 cases. The prevalences of hyperbetalipoproteinemia, hypertriglyceridemia, dyslipidemia, impaired glucose tolerance (IGT), and WCH were similar to excess weight in that they increased significantly until the seventh decade of life and decreased thereafter significantly (P hypertension (HT), diabetes mellitus (DM), and coronary heart disease (CHD) always increased significantly with age without any decrease (P definition of metabolic syndrome should include reversible metabolic risk factors such as excess weight (overweight and obesity), hyperbetalipoproteinemia, hypertriglyceridemia, dyslipidemia, IGT, and WCH, instead of irrevesible diseases such as DM, HT, CHD, and stroke that have already developed and require drug therapy. After development of one of the final metabolic diseases, the term metabolic syndrome probably loses most of its significance, since from that point on, nonpharmaceutical approaches such as lifestyle changes, diet, and exercise will provide little benefit to prevent development of the others, most likely due to the cumulative effects of the risk factors on body systems over a long period of time.

  5. [Jerusalem syndrome - a case report].

    Science.gov (United States)

    Poleszczyk, Anna; Swiecicki, Łukasz

    2013-01-01

    The aim of the paper was to present the case of a patient who developed acute psychotic symptoms on her visit to Jerusalem. The analysis of the clinical case and medical history. The presented 62-year-old women with a history of previous psychiatric disorder arrived with her husband to Jerusalem as a part of organised touristic group. She developed acute psychotic reaction through some stages characteristic for the third type of Jerusalem syndrome. Symptoms resolved completely soon after returning to Poland and admission to the hospital where an antipsychotic treatment was performed. Despite the rare occurrence of this phenomenon, it is worth noting that we can divide Jerusalem syndrome into three types depending on its clinical course, patient's history of previous psychiatric disorders and this division has some clinical implications. This syndrome can be also considered in the context of some factors connected with travelling in general which may be responsible for psychiatric disturbances occurring among travelers. The course of psychiatric disturbances in the presented patient resembled the third type of Jerusalem syndrome despite her past psychiatric history and probably travelling caused her decompensations. In clinical practice we have to remember that in case of the patients with a known psychiatric history, clinical evaluation may be useful before travelling. In previously healthy patients developing the third type of the Jerusalem syndrome early intervention and separation from Jerusalem and its holy places and their contact with family are crucial for soon recovery.

  6. NOONAN SYNDROMECASE REPORT

    Directory of Open Access Journals (Sweden)

    Milena Vujanović

    2014-06-01

    Full Text Available Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients.

  7. Delleman (Oculocerebrocutaneous Syndrome: Case report

    Directory of Open Access Journals (Sweden)

    Tomás Ortiz-Basso

    2014-01-01

    Full Text Available Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery.

  8. Straatsma syndrome: two case reports

    Directory of Open Access Journals (Sweden)

    Gabriela Nogueira

    Full Text Available Abstract This article reports two cases of Straatsma Syndrome, a rare disease, emphasizing its clinical features that inclued myopia, strabismus and amblyopia associated with persistent myelinated fibers in the retina. Ophthalmic examination, color retinography and optical coherence tomography were performed.

  9. Stylocarotid syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Petrović Branko

    2008-01-01

    Full Text Available INTRODUCTION The American otolaryngologist Eagle was the first to describe styloid syndrome in 1937 and the syndrome was named after him (Eagle's syndrome. The original description of two separate syndromes is connected with his name: classical syndrome, which almost constantly occurs after tonsillectomy and carotid artery syndrome, which occurs without tonsillectomy and also in cases when stylohyoid complex compresses the carotid segments and perivascular sympathetic fibers. In the following years, two more syndromes were defined: stylohyoid and pseudostylohyoid, which according to their manifestations, correspond to the genuine classical form. CASE OUTLINE A 40-year old male is presented, with a history of 3-year duration of pains in the upper part of the left side of the neck, in the left eye and its surroundings. Pain occurrences were not regular. Throbbing pains were most often provoked by sudden head movements and neck compression. He was healthy until the onset of these problems. The findings of all examinations were normal. The applied prophylactic therapy, typical for cluster headache, was without any effect. On 64-MSCT (multislice computed tomography, the neck arteries did not show any intraluminal pathology. The styloid processes were of normal length. On the left side, the styloid process tip pressed the internal carotid artery disturbing its longitudinal axis. CONCLUSION In our presentation, the defined lengths of the styloid processes were normal. The medial angulation of the left styloid process was more expressed reaching 63.5 degrees (the right side angulation was normal. Persistent and throbbing pain in the region of the left eye with backward projection suggested compression on the internal carotid artery. Pains were most frequently provoked by head turning and neck compression. 64-MSCT diagnostics enabled us to determine the characteristics of styloid processes and their relation to the internal carotid artery. Improvement

  10. Dress Syndrome - A Case Report

    Directory of Open Access Journals (Sweden)

    Kremić Zorana

    2016-06-01

    Full Text Available The drug reaction with eosinophilia and systemic symptoms (DRESS syndrome is an adverse drug-induced reaction that occurs most commonly after exposure to drugs, most frequently anticonvulsants, sulfa derivates, antidepressants, nonsteroidal anti-inflammatory drugs, and antimicrobials. We present a 61-year-old male, with a generalized maculopapular exanthema on the trunk, face, extremities, palms, soles, palate, and fever (38°C. His medical history was notable for generalized epilepsy, treated with carbamazepine during 1 month. The diagnosis of DRESS syndrome was confirmed by specific RegiSCAR criteria. In our case, skin eruptions were successfully treated with oral methylprednisolone, cephalexin, and topical corticosteroid ointment.

  11. CROUZON SYNDROME: A CASE REPORT

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    Debdas

    2015-07-01

    Full Text Available Crouzon’s Syndrome is a rare autosomal dominant disorder. Normally, the sutures in the human skull fuse after the complete growth of the brain. But, if any of these sutures closes early then it may interfere with the growth of the brain. Premature sutural fusion most commonly involves sagittal suture followed by coronal suture. We report a case of 6 - year - old male child presented with characteristic features of Crouzon’s syndrome. Diagnosis was made on the basis of clinical and radiological findings.

  12. Usher's syndrome--case report.

    Science.gov (United States)

    Kwiecień, Sława; Sulak, Robert; Szaflik, Jerzy

    2008-01-01

    The aim of this study is to present a case of coincidence of sensorineural hearing loss with chronic recurrent bilateral cystoid macular oedema in a 32-year-old woman, who was admitted to the clinic for deterioration of visual acuity of four months' duration. The patient gave a history of hearing loss for 29 years. Visual field examination disclosed peripheral ring scotoma. Electrophysiological examination was performed: pattern visual evoked response was within normal limits and electroretinogram displayed diminished both photopic and scotopic response. As ophthalmoscopy demonstrated no pigment in the fundus of the eye, the findings were consisted with diagnosis of retinitis pigmentosis sine pigmento. The presence of loss of hearing indicated the necessity of performing the genetic examination for Usher's syndrome. In order to establish a final diagnosis of Usher's syndrome genetic examination must be performed, but family history is relevant. Early investigation for Usher's syndrome in children with sensorineural hearing impairment is of a great significance. The patient may develop symptoms of retinitis pigmentosa in second or even third decade of his life. The necessity of thorough investigation for detecting other systemic abnormalities should be emphasized. There is no effective treatment of this syndrome. A child with Usher's syndrome requires a comprehensive care of different medical specialties. Psychological, educational and sociological attitude is also of a great importance in the child development.

  13. Bartter's syndrome: A case report of nephrocalcinosis

    OpenAIRE

    KOŞAN, Celalettin

    2014-01-01

    Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically in patients with Barter's syndrome, this is still generally unrecognized. We reported a case of Barter's syndrome with nephrocalcinosis and discussed clinical significance of nephrocalcinosis in this syndrome.

  14. Moebius syndrome: case report

    OpenAIRE

    Fontenelle, Lucia; Araujo, Alexandra Prufer de Q.C.; Fontana, Rosiane S.

    2001-01-01

    Nos últimos anos, temos tido oportunidade de diagnosticar maior número de casos da síndrome de Moebius, possivelmente como resultado de aumento real da sua incidência - já que numerosos fatores ambientais vêm sendo relacionados à gênese dessa síndrome. Dos casos avaliados em dois ambulatórios especializados, vale a pena registrar um deles devido à associação incomum com heterotopia cortical, dentre outras malformações.In the last few years we have been able to diagnose a larger number of case...

  15. NEONATAL ABSTINENCE SYNDROME - CASE REPORT

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    Aleksandra Matic

    2008-01-01

    Full Text Available Neonatal abstinence syndrome (NAS refers to the constellation of signs and symptoms exhibited by a newborn of drug-abusing mother. NAS is multisystemic disorder, most frequently involving central nervous and gastrointestinal systems with irritability, high-pitched cry, hyperactive reflexes, increased muscle tone, tremors, generalized convulsions, feeding and sleeping disorders, tachycardia, tachypnea, apnea, termolability and sweating, frequent hiccups, yawning and sneezing, vomiting, diarrhea and dehydration.Intrauterine narcotic disposition can give some other adverse effects beside NAS: fetal distress, premature birth, intrauterine growth retardation, microcephaly, increased incidence of congenital anomalies (cardiac and genitourinary anomalies, cleft palate, biliar atresia. Significantly increased risks of sudden infant’s death syndrome (SIDS, abnormalities in neurocognitive and behavioral development and deficiency in motor functions have also been noticed after the long-term surveys of these children.This paper is a case report of a newborn with developed clinical signs of NAS, but it also discusses diagnostics and management of such cases

  16. A Case of Wolfram Syndrome

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    Gholamali Naderian

    2010-01-01

    Full Text Available Purpose: To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. Case Report: A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundus examination. The patient also had diabetes insipidus, neurosensory deafness, neurogenic bladder, polyuria and extra-residual voiding indicating atony of the urinary tract, combined with delayed sexual maturity. Conclusion: One should consider Wolfram syndrome in patients with juvenile onset diabetes mellitus and hearing loss. Ophthalmological examination may disclose optic atrophy; urologic examinations are vital in such patients.

  17. Diogenes Syndrome: A Case Report

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    Projna Biswas

    2013-01-01

    Full Text Available Cessation of normal skin cleansing seen in geriatric or self-neglected patients can cause accumulation of keratinous crusts on the skin. In the extreme end of this spectrum is a condition known as Diogenes syndrome (DS. These patients may have psychiatric disorders like paranoid disorders, mood affection, or temporofrontal dementia. Subjects are mainly the elderly but few cases in younger age group of patients have also been reported. Lesions of DS are usually found over upper central chest, back, and groin. In the young, lesions are mainly found over scalp, face, or arms. Absence of normal skin cleaning causes keratin and dirty debris to accumulate and with time form a thick shell. These debris can be secondarily infected by bacteria, fungus, and so forth. These skin lesions are not usually seen in individual with proper hygiene. We report a case of Diogenes syndrome in a 34-year-old young male patient who had associated schizophrenia.

  18. Progeria syndrome: A case report

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    Rastogi Rajul

    2008-01-01

    Full Text Available Progeria is a rare and peculiar combination of dwarfism and premature aging. The incidence is one in several million births. It occurs sporadically and is probably an autosomal recessive syndrome. Though the clinical presentation is usually typical, conventional radiological and biochemical investigations help in confirming the diagnosis. We present a rare case of progeria with most of the radiological features as a pictorial essay.

  19. A case of Boerhaave syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yong Zoon; Ra, Woo Youn; Woo, Won Hyung [Hankang Sacred heart Hospital, Chung Ang University School of Medicine, Seoul (Korea, Republic of)

    1974-10-15

    Esophageal rupture may occur from an external force such as an explosion or trauma to the chest, spontaneously as from vomiting, by instrumental perforations during endoscopy, or by foreign bodies. A case of Boerhaave syndrome was seen in a healthy 52 years old man who complained of substernal pain, vomiting and dyspnea after over-drinking. Abnormalities seen on the chest film were; A) hydropneumothorax B) mediastinal emphysema and C) subcutaneous emphysema. These characteristic roentgen findings were confirmed an esophageal rupture.

  20. Thoracic outlet syndrome: Case report

    International Nuclear Information System (INIS)

    Marquez, Juan Camilo; Acosta, Mauricio Fernando; Uribe Jorge Ricardo

    2009-01-01

    We report a case of vascular thoracic outlet syndrome in a young man, diagnosed with upper limb arteriography, leading to repeated arterio-arterial emboli originating from a post-stenotic subclavian artery aneurysm. It is of our interest due to its low incidence and the small number of cases reported that have been diagnosed by arteriography. The thoracic outlet is the path through which vascular and neural structures goes from the neck to the axilla, and it has three anatomical strictures, that when pronounced, can compress the brachial plexus or subclavian vessels, leading to different symptoms and signs.

  1. [Acute respiratory distress syndrome: a review of the Berlin definition].

    Science.gov (United States)

    de Luis Cabezón, N; Sánchez Castro, I; Bengoetxea Uriarte, U X; Rodrigo Casanova, M P; García Peña, J M; Aguilera Celorrio, L

    2014-01-01

    Acute Respiratory Distress Syndrome (ARDS) is due to many causes. The absence of a universal definition up until now has led to a series of practical problems for a definitive diagnosis. The incidences of ARDS and Acute Lung Injury (ALI) vary widely in the current literature. The American-European Consensus Conference definition has been applied since its publication in 1994 and has helped to improve knowledge about ARDS. However, 18 years later, in 2011, the European Intensive Medicine Society, requested a team of international experts to meet in Berlin to review the ARDS definition. The purpose of the Berlin definition is not to use it as a prognostic tool, but to improve coherence between research and clinical practice. Copyright © 2013 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

  2. Noonan syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Asokan S

    2007-09-01

    Full Text Available Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1000-2500 children. This is a case report of a 13 year-old girl who was referred by a general dental practitioner to a pediatric dentist for management. Full mouth dental rehabilitation was done and the child was brought to a dental institution for correction of orofacial and occlusal defects. Multidisciplinary treatment is the key to success in managing children with Noonan syndrome and the pediatric dentists play an important position to lead the health team.

  3. Lemierre syndrome: a case report

    International Nuclear Information System (INIS)

    Bae, Young A; Lee, In Jae; Kim, Hyun Beom; Hong, Myung Sun; Lee, Kwan Seop; Lee, Yul; Bae, Sang Hoon

    2006-01-01

    Lemierre syndrome is a rare disease characterized by internal jugular vein thrombosis and septic emboli, and it primarily occurs in healthy young individuals; this disease usually follows an acute oropharyngeal infection. To the best of our knowledge, only a few reports about this disease have appeared in the radiologic literature. We report here the radiologic findings of a case of Lemierre syndrome in a young healthy female adolescent who had a history of acute pharyngotonsilitis. Chest radiographs showed lung nodules that displayed cavitary changes with rapid progression on the serial studies. High-resolution CT scan showed multi-focal patchy consolidations that connect with vessels, and this was suggestive of septic pulmonary embolism. Ultrasonography and CT scan of the neck revealed right internal jugular vein thrombosis

  4. Avoiding Pitfalls in Molecular Genetic Testing: Case Studies of High-Resolution Array Comparative Genomic Hybridization Testing in the Definitive Diagnosis of Mowat-Wilson Syndrome

    OpenAIRE

    Kluk, Michael Joseph; An, Yu; James, Philip; Coulter, David; Harris, David; Wu, Bai-Lin; Shen, Yiping

    2011-01-01

    The molecular testing options available for the diagnosis of genetic disorders are numerous and include a variety of different assay platforms. The consultative input of molecular pathologists and cytogeneticists, working closely with the ordering clinicians, is often important for definitive diagnosis. Herein, we describe two patients who had long histories of unexplained signs and symptoms with a high clinical suspicion of an underlying genetic etiology. Initial molecular testing in both ca...

  5. A case of Cronkhite-Canada syndrome

    International Nuclear Information System (INIS)

    Hirohama, Shigeo; Soedjaro; Machida, Takashi

    1985-01-01

    A 75-year-old woman with Cronkhite-Canada syndrome underwent computed tomography (CT) and ultrasonography (US). CT and US provided useful information on pathologic conditions, including edema of the digestive mucosa, which characterize this syndrome. Clinical analysis of this syndrome in 77 Japanese cases reported in the literature was presented. (Namekawa, K.)

  6. Neuroleptic malignant syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Patkar A

    1991-07-01

    Full Text Available An adult schizophrenic patient developed neuroleptic malignant syndrome following treatment with parenteral haloperidol. An early recognition of the syndrome, immediate discontinuation of the offending agent and prompt treatment with bromocriptine and lorazepam produced a good recovery. The various features of the case are discussed in view of the potential lethality of the syndrome.

  7. [Pseudo-Bartter syndrome--2 cases].

    Science.gov (United States)

    Jóźwiak, Lucyna; Jaroszyński, Andrzej; Baranowicz-Gaszczyk, Iwona; Borowicz, Ewa; Ksiazek, Andrzej

    2010-01-01

    Bartter syndrome represents the group of renal disturbances characterized by hypokaliemia and metabolic alkalosis. Some diseases could display hypokalemic metabolic alkalosis without primary tubular dysfunction. These disorders are called pseudo-Bartter syndrome. In this paper we present 2 cases of pseudo-Bartter syndrome related among to other things to overuse of diuretic drugs.

  8. Systematic review of case reports of antiphospholipid syndrome following infection.

    Science.gov (United States)

    Abdel-Wahab, N; Lopez-Olivo, M A; Pinto-Patarroyo, G P; Suarez-Almazor, M E

    2016-12-01

    The objective of this study was to conduct a systematic review of case reports documenting the development of antiphospholipid syndrome or antiphospholipid syndrome-related features after an infection. We searched Medline, EMBASE, Web of Science, PubMed ePubs, and The Cochrane Library - CENTRAL through March 2015 without restrictions. Studies reporting cases of antiphospholipid syndrome or antiphospholipid syndrome-related features following an infection were included. Two hundred and fifty-nine publications met inclusion criteria, reporting on 293 cases. Three different groups of patients were identified; group 1 included patients who fulfilled the criteria for definitive antiphospholipid syndrome (24.6%), group 2 included patients who developed transient antiphospholipid antibodies with thromboembolic phenomena (43.7%), and group 3 included patients who developed transient antiphospholipid antibodies without thromboembolic events (31.7%). The most common preceding infection was viral (55.6%). In cases that developed thromboembolic events Human immunodeficiency and Hepatitis C viruses were the most frequently reported. Parvovirus B19 was the most common in cases that developed antibodies without thromboembolic events. Hematological manifestations and peripheral thrombosis were the most common clinical manifestations. Positive anticardiolipin antibodies were the most frequent antibodies reported, primarily coexisting IgG and IgM isotypes. Few patients in groups 1 and 2 had persistent antiphospholipid antibodies for more than 6 months. Outcome was variable with some cases reporting persistent antiphospholipid syndrome features and others achieving complete resolution of clinical events. Development of antiphospholipid antibodies with all traditional manifestations of antiphospholipid syndrome were observed after variety of infections, most frequently after chronic viral infections with Human immunodeficiency and Hepatitis C. The causal relationship between infection

  9. [Multiorgan autoimmune syndrome: case report].

    Science.gov (United States)

    Ghiringhelli, Paolo; Chelazzi, Paolo; Chelazzi, Giovanni; Bellintani, Claudio; Rania, Simone

    2003-01-01

    The present case report refers to a multiorgan autoimmune disease manifesting following thymectomy performed for a benign thymoma. This disease is characterized by hypothyroidism, severe myasthenia, polymyositis and alopecia which are organ-specific diseases probably with a different time of onset but which are all an expression of the same immunopathologic process occurring in individuals who have a genetic predisposition. Characteristic of the present case is not only the association of the different immunopathologic clinical pictures but also the rather difficult differential diagnosis between a hypothyroidism-related myopathy and polymyositis. It was possible to formulate the diagnosis by integrating the results of clinical and laboratory evaluation with the therapeutic outcome. The onset of the syndrome was attributed to the withdrawal, following surgery, of the inhibitory effects of the thymoma on some clones of autoreactive lymphocytes.

  10. Insulin autoimmune syndrome: case report

    Directory of Open Access Journals (Sweden)

    Rodrigo Oliveira Moreira

    Full Text Available CONTEXT: Insulin autoimmune syndrome (IAS, Hirata disease is a rare cause of hypoglycemia in Western countries. It is characterized by hypoglycemic episodes, elevated insulin levels, and positive insulin antibodies. Our objective is to report a case of IAS identified in South America. CASE REPORT: A 56-year-old Caucasian male patient started presenting neuroglycopenic symptoms during hospitalization due to severe trauma. Biochemical evaluation confirmed hypoglycemia and abnormally high levels of insulin. Conventional imaging examinations were negative for pancreatic tumor. Insulin antibodies were above the normal range. Clinical remission of the episodes was not achieved with verapamil and steroids. Thus, a subtotal pancreatectomy was performed due to the lack of response to conservative treatment and because immunosuppressants were contraindicated due to bacteremia. Histopathological examination revealed diffuse hypertrophy of beta cells. The patient continues to have high insulin levels but is almost free of hypoglycemic episodes.

  11. Primary Sjogren Syndrome: Case report

    Directory of Open Access Journals (Sweden)

    Eylem Yaman Pinarci

    2013-08-01

    Full Text Available The importance of systemic evaluation of dry eye patients and choosing appropriate treatment based on the severity of disease were emphasized with this case. 48 years old woman complained about decreased vision, burning, itching in both eyes which got worse over the years, for about 20 years. Schirmer I test value was 0 mm/5min in both eyes. Slit lamp examination revealed filamentary keratitis in both eyes. Anti-Ro/ SSA, anti-La/ SS-B antibodies and salivary gland biopsy for Sjogren syndrome were positive. Temporary punctal occlusion and oral hydroxychloroquine were added to her treatment. After 10 days, her overall dry eye condition improved and permanent punctual plugs were inserted in both lower puctums.Dry eye patients should be evaluated systemically and severity of disease should be considered before treatment is started. Addition to topical application of artificial tears, punctal occlusion may be a proper option in dry eye patients with Sjogren syndrome. [Cukurova Med J 2013; 38(4.000: 818-822

  12. [Scimitar syndrome: a case series].

    Science.gov (United States)

    Jaramillo González, Carlos; Karam Bechara, José; Sáenz Gómez, Jessica; Siegert Olivares, Augusto; Jamaica Balderas, Lourdes

    Scimitar syndrome is a rare and complex congenital anomaly of the lung with multiple variables and is named for its resemblance to the classical radiological crooked sword. Its defining feature is the anomalous pulmonary drainage. It is associated with various cardiothoracic malformations and a wide spectrum of clinical manifestations. Nine patients diagnosed with scimitar syndrome found in the database of Hospital Infantil de México between 2009 and 2013 were reviewed. Demographic records, clinical status and hemodynamic parameters reported were collected. This case series called attention to certain differences between our group of patients and those reported in the international literature. Patients were predominantly female and were diagnosed between 1 and 20 months of life. All were asymptomatic at the time of the study. Half of the patients had a history of respiratory disease and all patients had with pulmonary hypertension. Surgical management was required in on-third of the patient group. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  13. Bruck syndrome: a case report

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    Дмитрий Степанович Буклаев

    2015-09-01

    Full Text Available The article describes the clinical case of an infant with Bruck syndrome. The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle groups. There was also a right-sided congenital muscular torticollis. X-ray analysis revealed a moderate antecurvation deformity of the lower legs and femurs, with cortical thinning. Laboratory data detected an abnormal beta-cross lap increase.Treatment of osteoporosis by inhibitors of osteoclastic resorption (pamidronate had a positive effect, and the elimination of flexion contractures at the elbow using plaster bandages with the distraction device also resulted in a positive effect.

  14. Noonan Syndrome and Stroke: A Case Report

    Directory of Open Access Journals (Sweden)

    Ebru Nur Mıhçı

    2012-03-01

    Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance

  15. Noonan Syndrome and Stroke: A Case Report

    Directory of Open Access Journals (Sweden)

    Ebru Nur Mıhçı

    2012-03-01

    Full Text Available Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.

  16. Meckel Gruber Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  17. Benedikt's Syndrome: A Rare Case Report

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    Aslı Aksoy Gundogdu

    2017-08-01

    Full Text Available Benedikt syndrome is a rare midbrain syndrome which is associated with the damage of the median mesencephalic tegmentum. The most common etiology of this syndrome is ischemic stroke. The occlusion of the posterior cerebral artery or the paramedian branches of the basilar artery results with the ischemia of this midbrain territory. Ipsilateral occulomotor cranial nerve palsy, contralateral hemiparesis, hemihypoesthesia, hemiataxia and korea or tremor are the clinical symptoms of this syndrome. In this article, we reported a case of Benedikt syndrome with an etiologic cause of cardioembolic stroke, who was diagnosed by the neurological examination and neuroradiological findings.

  18. Menkes syndrome: report of a case and review

    International Nuclear Information System (INIS)

    Sancho, B.; Villanua, J.A.; Almeida, M.; Olondo, M.L.; Nogues, A.; Recondo, J.A.

    1995-01-01

    Menkes' syndrome is a complex disorder of the copper metabolism that is transmitted as a X-linked recessive trait. Among the clinical signs are progressive psycho motor retardation, myoclonic seizures and kinky hair. We present a new case of this disease, describing the most characteristics radiological findings, especially the symmetrical skeletal changes, marked neuro degenerative changes and vascular changes (arterial elongation and tortuosity). The laboratory tests for the definitive diagnosis showed a decrease in the plasma copper and ceruloplasmin levels. 16 refs

  19. Serotonin Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Pedro Oliveira

    2018-01-01

    Full Text Available Serotonin Syndrome (SS is a potentially fatal iatrogenic condition that occurs as a result of an over-stimulation of the serotonergic receptors. Its typical presentation consists of the triad altered mental status, autonomic hyperactivity and neuromuscular alterations, although the clinical condition is highly variable. Despite being potentially treatable, many cases per year are underdiagnosed, a fact that has been mainly attributed to the lack of knowledge of this condition by the physicians. SS treatment relies on four pillars: removal of the precipitating agent and supportive therapy, antagonism of 5-HT2A receptors, and control of agitation, autonomic instability and hyperthermia. It is expected that its incidence will accompany the growth of the prescription of antidepressants, andincreasing physician’s awareness about its occurrence, could contribute to a timely diagnosis and to the success of the treatment. We present a clinical case of a patient diagnosed with Bipolar Affective Disorder, hospitalized for a depressive episode with a psychotic component, which developed a SS compatible condition. Based on this case report the authors undertake a theoretical review of this condition.

  20. Waardenburg Syndrome: A Case Report

    OpenAIRE

    Hayrullah Alp; Esma Alp

    2010-01-01

    Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in ea...

  1. Diagnosis of 20 cases with chronic radiation syndrome

    International Nuclear Information System (INIS)

    Zhang, Hongshou; Shen, Zhezhong; Wen Zhigen; Xie, Xiaoping; Ni, Jinxian

    1984-01-01

    Twenty cases with chronic radiation syndrome were diagnosed in our department during 1957-1980. All except one were radiologists, and eight of them had worked in radiological departments for over 20 years. Owing to the use of out-dated x-ray machines as well as radium sources without adequate protection, all these cases were apparently overexposed to radiation. They presented following signs and symptoms of chronic radiation syndrome: excitability, palpitation, fatigue, general weakness, loss of weight, oversweating accompanied by tendency of lowered metabolism, peripheral blood cell changes, and chromosome aberrations. The diagnosis of this syndrome was based on definitive professional and over-exposure history, clinical picture and abnormal laboratory findings. (author)

  2. Foix-Chavany syndrome. CT study and clinical report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Ferrari, G; Boninsegna, C [Santa Chiara Hospital, Trento (Italy). Div. of Neurology; Beltramello, A

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized.

  3. Waardenburg syndrome: A report of three cases

    Directory of Open Access Journals (Sweden)

    Ghosh Sudip

    2010-01-01

    Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

  4. Gorlin-Goltz syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  5. Gorlin-goltz syndrome: a rare case.

    Science.gov (United States)

    Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

    2015-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  6. Gorlin-Goltz Syndrome: A Rare Case

    OpenAIRE

    Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

    2015-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  7. Cases of Churg-Strauss syndrome in patients receiving montelukast

    Directory of Open Access Journals (Sweden)

    Petrović Jelena

    2012-01-01

    Full Text Available Churg-Strauss syndrome is a rare disorder, but in patients with asthma it may develop as an adverse effect of the administered drugs. The aim of this study was to investigate possible causal relationship between montelukast and the occurrence of Churg-Strauss syndrome. Medical literature was reviewed by searching the databases 'Medline' and 'Googlescholar', in order to detect published cases of Churg-Strauss syndrome associated with use of montelukast. In this article is included 13 publications which contain the following keywords: montelukast, Churg-Strauss syndrome and side effects. Relationship between use of montelukast and development of Churg-Strauss syndrome was not clearly causal, although montelukast was associated with development and relapse of the syndrome. This fact supports the hypothesis that leukotriene antagonists are involved in the pathogenesis of this serious disease. Special attention should be paid to appearance of new symptoms in an asthmatic patient, already treated with corticosteroids, who start receiving leukotriene antagonists, especially if the dose of corticosteroids is reduced. Definitive confirmation or rejection of the hypothesis that leukotriene antagonists are directly involved in the development of this syndrome require further investigations.

  8. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  9. Williams-Beuren's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  10. A new definition for the acute respiratory distress syndrome.

    Science.gov (United States)

    Thompson, B Taylor; Moss, Marc

    2013-08-01

    Similar to other syndromes, patients are defined as having acute respiratory distress syndrome (ARDS) when they meet prespecified diagnostic criteria. These criteria have evolved over time, having gained and lost complexity, but the core principles have remained remarkably similar over the past 45 years. The specific diagnostic criteria allow clinicians and investigators to reliably identify patients with the syndrome of ARDS. ARDS is a form of acute diffuse lung injury occurring in patients with a predisposing risk factor. Lung injury is characterized by inflammation leading to increased endothelial and epithelial permeability and loss of aerated lung tissue resulting in hypoxemia and bilateral radiographic opacities on chest radiography. Additional physiological derangements include increased venous admixture and physiological dead space along with decreased respiratory system compliance. The corresponding pathological findings are lung edema, inflammation, hyaline membranes, and alveolar hemorrhage (i.e., diffuse alveolar damage). This article discusses the evolution of the definition of ARDS to the new Berlin definition of ARDS proposed in 2012 and its novel iterative refinement. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  11. Hermansky-Pudlak syndrome; a Case Report

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2010-01-01

    Full Text Available Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event. Conclusion: Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

  12. Case Report - Neonatal progeroid syndrome (Wiedemann ...

    African Journals Online (AJOL)

    Case Report - Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin ... pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, ...

  13. CASE REPORT Moebius syndrome with macular hyperpigmentation ...

    African Journals Online (AJOL)

    Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle. KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; ...

  14. Churg-strauss syndrome: a case report.

    Science.gov (United States)

    Zhdan, Vyacheslav М; Kitura, Yevdokiia М; Kitura, Oksana Ye; Babanina, Maryna Yu; Tkachenko, Maksym V; Lebid, Volodymyr G

    A clinical case of Churg-Strauss syndrome has been reported on the 53-year-old female patient Ts. with bronchial asthma and allergic rhinitis. The main clinical signs and syndromes depending on the stage of the disease are presented, as well as therapeutic treatment of patients with this disease.

  15. Adult polysplenia syndrome. A case report

    International Nuclear Information System (INIS)

    Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

    1997-01-01

    Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

  16. Trigeminal Trophic SyndromeCase Report

    Directory of Open Access Journals (Sweden)

    Boštjan Matos

    2015-05-01

    Full Text Available 1024x768 Trigeminal trophic syndrome is a rare condition resulting from compulsive self-manipulation of the skin after a peripheral or central injury to the trigeminal system. The classic triad consists of trigeminal anesthesia, facial paresthesias, and crescentric lateral nasal alar erosion and ulceration. Although the symptoms are visibly clear, the diagnosis is not easy to establish. The appearance of the ulcers mimics many other disease entities such as neoplasm, infection, granulomatous disease, vasculitis and factitial dermatitis. Trigeminal trophic syndrome should be considered with a positive neurologic history and when laboratory and biopsy workup is inconclusive. Once diagnosis is confirmed, treatment is complicated and often multidisciplinary. We report a case of a woman who developed a strictly unilateral crescent ulcer of the ala nasi after resection of an statoacoustic neurinoma. A clinician who is faced with a patient with nasal ulceration should consider this diagnosis.     Normal 0 false false false EN-US X-NONE X-NONE /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  17. Poland's Syndrome: A Case Report

    African Journals Online (AJOL)

    jen

    The Poland's anomaly was first described in 1841 by Sir Alfred Poland as a syndrome presenting with absence or underdevelopment of pectoralis ... He was the second child in a family of four. There was no familial history of similar .... hypoplasia: a middle degree of Poland syndrome. Acta Radiologica 1996; 37: 759-762. 8.

  18. Kawasaki syndrome: a case report.

    Science.gov (United States)

    Blakeley, S L; Cohen, P R

    1993-08-01

    A four-year-old black boy with Kawasaki syndrome is reported. The child was treated with intravenous gamma globulin and aspirin. He had no disease-associated adverse sequelae. The clinical findings, diagnostic criteria, and treatment of Kawasaki syndrome are reviewed.

  19. Two cases of Goldenhar syndrome.

    Science.gov (United States)

    Caca, Ihsan; Unlu, Kaan; Ari, Seyhmus

    2006-01-01

    We describe two boys with Goldenhar syndrome. The 8-year-old boy had an epibulbar dermoid in his left eye, type 1 Duane syndrome, bilateral preauricular appendages, and an interauricular septal defect. The 10-year-old boy had an epibulbar dermoid in his right eye, appendages in the right preauricular region, and sensorineural hearing loss.

  20. A fatal case of Perthes syndrome

    Directory of Open Access Journals (Sweden)

    Jérôme Jobé

    2013-01-01

    Full Text Available Perthes syndrome, or traumatic asphyxia, is a clinical syndrome associating cervicofacial cyanosis with cutaneous petechial haemorrhages and subconjonctival bleeding resulting from severe sudden compressive chest trauma. Deep inspiration and a Valsalva maneuver just prior to rapid and severe chest compression, are responsible for the development of this syndrome. Current treatment is symptomatic: urgent relief of chest compression and cardiopulmonary resuscitation if needed. Outcome may be satisfactory depending on the duration and severity of compression. Prolonged thoracic compression may sometimes lead to cerebral anoxia, irreversible neurologic damage and death. We report a fatal case of Perthes syndrome resulting from an industrial accident.

  1. Seckel syndrome: a report of a case.

    Science.gov (United States)

    Ramalingam, K; Kaliyamurthy, S D; Govindarajan, M; Swathi, S

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  2. Seckel syndrome: A report of a case

    Directory of Open Access Journals (Sweden)

    K Ramalingam

    2012-01-01

    Full Text Available Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000, genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia, and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limited to the primary dentition; in most instances the second primary molar tooth is not affected. A case of the Seckel syndrome is presented.

  3. A new definition of burnout syndrome based on Farber's proposal

    Directory of Open Access Journals (Sweden)

    Mera Domingo

    2009-11-01

    Full Text Available Abstract Background Although diverse definitions have been construed for burnout syndrome, most authors consider it to be a single phenomenon, the result of chronic work-related stress. However, in order to enable specific intervention strategies to be adopted, it is first necessary to establish different profiles for the syndrome. In this respect, have been proposed three burnout types ("frenetic", "underchallenged" and "worn-out", each of which requires different means of dealing with frustration in the workplace. This study is an attempt to define and systematize the properties that characterize this typology proposal. Methods For this purpose, the documents considering preliminary typology were examined by means of qualitative content analysis supported by grounded theory. Semiotic analysis was then performed on the core category resulting from the previous analysis. Results A classification criterion, made up of three different burnout subtypes ("frenetic", "underchallenged", and "worn-out" capable of integrating the entire proposal was formulated. Discussion Understanding the development of burnout syndrome, as a succession of stages characterized by the progressive diminishing of dedication to work, could serve for the establishment of specific therapies and for the prevention of the syndrome.

  4. Case definition terminology for paratuberculosis (Johne's disease).

    Science.gov (United States)

    Whittington, R J; Begg, D J; de Silva, K; Purdie, A C; Dhand, N K; Plain, K M

    2017-11-09

    Paratuberculosis (Johne's disease) is an economically significant condition caused by Mycobacterium avium subsp. paratuberculosis. However, difficulties in diagnosis and classification of individual animals with the condition have hampered research and impeded efforts to halt its progressive spread in the global livestock industry. Descriptive terms applied to individual animals and herds such as exposed, infected, diseased, clinical, sub-clinical, infectious and resistant need to be defined so that they can be incorporated consistently into well-understood and reproducible case definitions. These allow for consistent classification of individuals in a population for the purposes of analysis based on accurate counts. The outputs might include the incidence of cases, frequency distributions of the number of cases by age class or more sophisticated analyses involving statistical comparisons of immune responses in vaccine development studies, or gene frequencies or expression data from cases and controls in genomic investigations. It is necessary to have agreed definitions in order to be able to make valid comparisons and meta-analyses of experiments conducted over time by a given researcher, in different laboratories, by different researchers, and in different countries. In this paper, terms are applied systematically in an hierarchical flow chart to enable classification of individual animals. We propose descriptive terms for different stages in the pathogenesis of paratuberculosis to enable their use in different types of studies and to enable an independent assessment of the extent to which accepted definitions for stages of disease have been applied consistently in any given study. This will assist in the general interpretation of data between studies, and will facilitate future meta-analyses.

  5. Public health implications of using various case definitions in The Netherlands during the worldwide SARS outbreak.

    NARCIS (Netherlands)

    Timen, A.; Doornum, G.J.J. van; Schutten, M.; Conyn-van Spaendonck, M.A.; Meer, J.W.M. van der; Osterhaus, A.D.; Steenbergen, J.E. van

    2006-01-01

    This study analysed the consequences of deviation from the WHO case definition for the assessment of patients with suspected severe acute respiratory syndrome (SARS) in The Netherlands during 2003. Between 17 March and 7 July 2003, as a result of dilemmas in balancing sensitivity and specificity,

  6. Lemierre syndrome: two cases and a review.

    Science.gov (United States)

    Syed, Mohammed Iqbal; Baring, David; Addidle, Michael; Murray, Craig; Adams, Calum

    2007-09-01

    Lemierre syndrome is usually caused by an acute oropharyngeal infection in previously healthy young adults, resulting in thrombophlebitis of the internal jugular vein, leading to metastatic septic embolization and bacteraemia. The usual organism is Fusobacterium necrophorum. Lemierre syndrome, not so long ago labeled as the "forgotten disease," is on the rise. Today with increasing antibiotic-resistant organisms, and decreasing awareness of the syndrome, subsequent re-emergence of this "forgotten disease" is becoming more common in clinical settings. Lemierre syndrome has significant morbidity. Cranial nerve complications associated with the condition have been increasingly diagnosed in the last few years. Looking back at literature on Lemierre syndrome, there have been review articles in medical and microbiology journals but rarely in otolaryngology journals. By presenting our cases we demonstrate the diverse presentations and severity of the illness. A review of the literature and a case report on two cases seen in our institution in the last year are presented. Each of these had varied presentations and neurologic complications-one developed 9th to 12th cranial nerve palsies and Horner syndrome, which have not been described in previous literature, and the other developed polyneuropathy and a frontal lobe infarct among other multisystem complications. Diagnosis of Lemierre syndrome is not always straightforward as clinical features are variable and blood cultures are often negative. Awareness of the syndrome and a high degree of suspicion are needed.

  7. Metabolic syndrome in Mexican children: Low effectiveness of diagnostic definitions.

    Science.gov (United States)

    Peña-Espinoza, Barbara Itzel; Granados-Silvestre, María de Los Ángeles; Sánchez-Pozos, Katy; Ortiz-López, María Guadalupe; Menjivar, Marta

    Early identification of children with metabolic syndrome (MS) is essential to decrease the risk of developing diabetes and cardiovascular disease in adulthood. Detection of MS is however challenging because of the different definitions for diagnosis; as a result, preventive actions are not taken in some children at risk. The study objective was therefore to compare prevalence of MS in children according to the IDF, NCEP-ATP-III, Cook, de Ferranti and Weiss definitions, considering insulin resistance (IR) markers such as HOMA-IR and/or metabolic index (MI). A total of 508 Mexican children (aged 9 to 13 years) from seven schools were enrolled in a cross-sectional study. Somatometric, biochemical, and hormonal measurements were evaluated. Frequency of MS was 2.4-45.9% depending on the definition used. Frequency of IR in children not diagnosed with MS was 12.4-25.2% using HOMA-IR and 4.0-16.3% using MI. When HOMA-IR or MI was included in each of the definitions, frequency of MS was 8.5-50.2% and 7.7-46.9% respectively. The kappa value including HOMA-IR and/or MI was greater than 0.8. This study demonstrated the poor effectiveness of the current criteria used to diagnose MS in Mexican children, as shown by the variability in the definitions and by the presence of IR in children who not diagnosed with MS. Inclusion of HOMA-IR and/or MI in definitions of MS (thus increasing agreement between them) decreases the chance of excluding children at risk and allows for MS prevalence between populations. Copyright © 2017 SEEN y SED. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  9. Heterotaxy syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Daniel de Souza Carneiro

    2013-06-01

    Full Text Available The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

  10. Case report 509: Proteus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

    1988-10-01

    Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back.

  11. Case report 509: Proteus syndrome

    International Nuclear Information System (INIS)

    Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

    1988-01-01

    Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back. (orig.)

  12. [Williams-Beuren syndrome (Williams syndrome). Case report].

    Science.gov (United States)

    Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

    2017-11-01

    Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

  13. Proposed clinical case definition for cytomegalovirus-immune recovery retinitis.

    Science.gov (United States)

    Ruiz-Cruz, Matilde; Alvarado-de la Barrera, Claudia; Ablanedo-Terrazas, Yuria; Reyes-Terán, Gustavo

    2014-07-15

    Cytomegalovirus (CMV) retinitis has been extensively described in patients with advanced or late human immunodeficiency virus (HIV) disease under ineffective treatment of opportunistic infection and antiretroviral therapy (ART) failure. However, there is limited information about patients who develop active cytomegalovirus retinitis as an immune reconstitution inflammatory syndrome (IRIS) after successful initiation of ART. Therefore, a case definition of cytomegalovirus-immune recovery retinitis (CMV-IRR) is proposed here. We reviewed medical records of 116 HIV-infected patients with CMV retinitis attending our institution during January 2003-June 2012. We retrospectively studied HIV-infected patients who had CMV retinitis on ART initiation or during the subsequent 6 months. Clinical and immunological characteristics of patients with active CMV retinitis were described. Of the 75 patients under successful ART included in the study, 20 had improvement of CMV retinitis. The remaining 55 patients experienced CMV-IRR; 35 of those developed CMV-IRR after ART initiation (unmasking CMV-IRR) and 20 experienced paradoxical clinical worsening of retinitis (paradoxical CMV-IRR). Nineteen patients with CMV-IRR had a CD4 count of ≥50 cells/µL. Six patients with CMV-IRR subsequently developed immune recovery uveitis. There is no case definition for CMV-IRR, although this condition is likely to occur after successful initiation of ART, even in patients with high CD4 T-cell counts. By consequence, we propose the case definitions for paradoxical and unmasking CMV-IRR. We recommend close follow-up of HIV-infected patients following ART initiation. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  14. Guillain Barre Syndrome Following Traumatic Brain Injury: A Rare Case

    Directory of Open Access Journals (Sweden)

    Kirac Unal

    2016-06-01

    Full Text Available Introduction Guillain-Barre syndrome (GBS is an immune-mediated acute inflammatory disorder of the peripheral nervous system. Infectious agents were usually accused of playing a role in the etiology of GBS. Guillain-Barre syndrome has rarely been reported following subdural and subarachnoid hemorrhage after head trauma. Case Presentation We report on a 63-year-old male patient presenting GBS following Traumatic Brain Injury (TBI. Only five other similar cases are described in the literature. Conclusions Sudden onset of GBS symptoms following trauma may erroneously be assessed as secondary complications of the TBI and can lead to unnecessary procedures such as computerized tomography (CT scan and magnetic resonance imaging (MRI for a definitive diagnosis and may be a waste of time.

  15. Aggressive periodontitis: case definition and diagnostic criteria.

    Science.gov (United States)

    Albandar, Jasim M

    2014-06-01

    Aggressive periodontitis is a destructive disease characterized by the following: the involvement of multiple teeth with a distinctive pattern of periodontal tissue loss; a high rate of disease progression; an early age of onset; and the absence of systemic diseases. In some patients periodontal tissue loss may commence before puberty, whereas in most patients the age of onset is during or somewhat after the circumpubertal period. Besides infection with specific microorganisms, a host predisposition seems to play a key role in the pathogenesis of aggressive periodontitis, as evidenced by the familial aggregation of the disease. In this article we review the historical background of the diagnostic criteria of aggressive periodontitis, present a contemporary case definition and describe the clinical parameters of the disease. At present, the diagnosis of aggressive periodontitis is achieved using case history, clinical examination and radiographic evaluation. The data gathered using these methods are prone to relatively high measurement errors. Besides, this diagnostic approach measures past disease history and may not reliably measure existing disease activity or accurately predict future tissue loss. A diagnosis is often made years after the onset of the disease, partly because current assessment methods detect established disease more readily and reliably than they detect incipient or initial lesions where the tissue loss is minimal and usually below the detection threshold of present examination methods. Future advancements in understanding the pathogenesis of this disease may contribute to an earlier diagnosis. Insofar, future case definitions may involve the identification of key etiologic and risk factors, combined with high-precision methodologies that enable the early detection of initial lesions. This may significantly enhance the predictive value of these tests and detect cases of aggressive periodontitis before significant tissue loss develops. © 2014

  16. [Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

    Science.gov (United States)

    Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

    2018-01-26

    This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

  17. An unusual case of nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    M Sahay

    2016-01-01

    Full Text Available Nephrotic syndrome can be rarely due to inherited disorders of enzymes. One such variety is lecithin cholesterol acyltransferase deficiency. It leads to accumulation of unesterified cholesterol in the eye and other organs. We report a case of nephrotic syndrome with cloudy cornea and hypocholesterolemia with foam cells and lipid deposits on renal biopsy. Awareness about this rare disease may help in the early institution of specific measures to prevent progression to end-stage renal disease.

  18. Caudal regression syndrome : a case report

    International Nuclear Information System (INIS)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun

    1998-01-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging

  19. Caudal regression syndrome : a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Joo; Kim, Hi Hye; Kim, Hyung Sik; Park, So Young; Han, Hye Young; Lee, Kwang Hun [Chungang Gil Hospital, Incheon (Korea, Republic of)

    1998-07-01

    Caudal regression syndrome is a rare congenital anomaly, which results from a developmental failure of the caudal mesoderm during the fetal period. We present a case of caudal regression syndrome composed of a spectrum of anomalies including sirenomelia, dysplasia of the lower lumbar vertebrae, sacrum, coccyx and pelvic bones,genitourinary and anorectal anomalies, and dysplasia of the lung, as seen during infantography and MR imaging.

  20. Marshall-smith syndrome: case report

    International Nuclear Information System (INIS)

    Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

    2002-01-01

    Marshall-smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-smith syndrome is as, for as we know, the first to be published in Korea

  1. Marshall-Smith syndrome: case report

    International Nuclear Information System (INIS)

    Kim, Jin Yong; Lee, Shi Kyung; Cho, In Chul; Han, Chun Hwan

    2002-01-01

    Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea

  2. Usher Syndrome: Case Reports of Two Siblings

    OpenAIRE

    Raman Prasad Sah, B.Optom; Pragati Gautam, MD; Jyoti Baba Shrestha, MD; Mahesh Raj Joshi, M.Optom

    2015-01-01

    Background: Usher syndrome is a rare autosomal recessive disorder characterized by congenital sensory neural deafness and progressive visual loss secondary to retinitis pigmentosa. There are three different types of Usher syndrome. Retinitis pigmentosa is the main ophthalmic manifestation shared by all three. Differences in auditory and vestibular function are the distinguishing feature. Case Reports: Two brothers, 13 and 16 years of age, presented with chief complaints of progressive dim...

  3. Tropical diabetic hand syndrome: a case report.

    Science.gov (United States)

    Yeika, Eugene Vernyuy; Tchoumi Tantchou, Jacques Cabral; Foryoung, Joyce Bei; Tolefac, Paul Nkemtendong; Efie, Derrick Tembi; Choukem, Siméon Pierre

    2017-02-13

    Tropical diabetic hand syndrome describes a complex hand sepsis affecting patients with diabetes across the tropics and often results from a trivial hand trauma. The clinical presentation of this syndrome is variable and ranges from localised swelling and cellulitis, with or without ulceration of the hand to progressive fulminant hand sepsis, and gangrene affecting the entire limb which may be fatal. Tropical diabetic hand syndrome could lead to permanent disability and death as a result of delay in presentation, late diagnosis and late medical and surgical intervention. This indexed case acts as an eye opener for physicians to the existence of this hand sepsis. We report the case of a 57 year-old black African female diabetic who was referred to our centre for the management of a suppurating ulcer and swelling of the left hand of two weeks duration. On examination and work-up, the patient was found to have Lawal Group III left diabetic hand syndrome and was managed with parenteral antibiotics, radical debridement and the hand was eventually amputated. She died 7 days following amputation from overwhelming sepsis. Though tropical diabetic hand syndrome is a relatively rare complication of diabetes, it can be fatal as in this case report. Early diagnosis and proper management would yield better outcome. Initial management should include aggressive intravenous broad-spectrum antibiotics with anaerobic coverage. Classification of tropical diabetic hand syndrome will assist physicians and surgeons in decision making, proper management and easy communication.

  4. A Case of Classic Raymond Syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas George Zaorsky

    2012-01-01

    Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

  5. Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome

    Directory of Open Access Journals (Sweden)

    Preetha Balaji

    2017-01-01

    Full Text Available Gingival fibromatosis with hypertrichosis syndrome is an extremely rare genetic condition characterized by profound overgrowth of hair and gums, as well as other variable features. Gingival fibromatosis is characterized by a large increase in the gingival dimension which extends above the dental crowns, covering them partially or completely. They were found to have a genetic origin, may also occur in isolation or be part of a syndrome, or acquired origin, due to specific drugs administered systemically. Congenital generalized hypertrichosis is a heterogeneous group of diseases with continuing excessive growth of terminal hair without androgenic stimulation. It has informally been called werewolf syndrome because the appearance is similar to that of a werewolf. Various syndromes have been associated with these features such as epilepsy, mental retardation, cardiomegaly, or osteochondrodysplasia. As so far very few cases have been reported in literature, we are reporting a series of three cases with management of the same. The excess gingival tissues, in these cases, were removed by conventional gingivectomy under general anesthesia. The postoperative result was uneventful and the patient's appearance improved significantly. Good esthetic result was achieved to allow patient to practice oral hygiene measures. Though this is not a serious condition clinically, psychosocial trauma cannot be neglected owing to the cosmetic disfigurement it produces.

  6. [Clinical analysis of 6 cases of Bartter syndrome].

    Science.gov (United States)

    Yin, Fang-mei; Zheng, Fang-qiu; Zhang, Xin; Wu, Mei-jun; Wei, Hong-yan; Ma, Zhong-shu; Lu, Biao; Qiu, Ming-cai

    2011-03-01

    To summarize the clinical characteristics of Bartter syndrome and investigate its pathogenesis. The clinical data of 6 cases of Bartter syndrome at our hospital from November 2006 to May 2010 were analyzed retrospectively. The onset age of Bartter syndrome was 13-35 years old. The main symptoms included weakness (6/6), paralysis (1/6), numbness (5/6) and tetany (4/6). All patients had normal blood pressure. The biochemical tests showed persistent hypokalemia, metabolic alkalosis (6/6) and hyperreninemia. The pathological examination of deltoid muscle biopsy showed the swelling, degeneration and necrosis of myocytes and the deposition of immunocomplex in myolemma. And the pathological examination of renal biopsy showed the hyperplasia of juxtaglomerular apparatus (5/6) and the deposition of immunocomplex. All symptoms were relieved after a therapy of potassium supplementation or a combination of indomethacin, spironolactone and immunosuppressant. When such clinical features as weakness, paralysis, tetany, hypokalemic alkalosis and normotension are encountered, Bartter syndrome should be suspected. Serum electrolytes, blood gas analysis and activation of the renin-angiotensin-aldosterone system should be examined for a definite diagnosis. The treatment of choice includes potassium and magnesium supplementation or in combination with prostaglandin synthetase inhibitor, aldosterone antagonist and immunosuppressant. Immunologic mechanism may participate in the course of Bartter syndrome.

  7. [Antisynthetase syndrome - a case report].

    Science.gov (United States)

    Prus, Visnja; Bedeković, Drazen; Milas-Ahić, Jasminka; Visević, Roberta; Segec, Branko; Jukić, Zlatica; Perić, Ljiljana

    2013-01-01

    Twenty-eight year-old woman with predominant signs of polymyositis, pulmonary interstitium involvement and with positive anti-Jo1 antibodies was suspected for antisynthetase syndrome. Over the next three months sores and ulcerations have appeared at the fingertips. In the later course of the disease clinical picture of mixed connective tissue disease associated with interstitial lung disease, with a dominant picture of systemic sclerosis have emerged. She was treated with glucocorticoides and immunosuppressive therapy. Patient condition was mostly stable, without significant progression of lung lesions. Early diagnosis and treatment antisynthetase syndrome significantly contributes to more favorable course and outcome of disease. A prerequisite for that are well-defined diagnostic criteria and an appropriate choice of treatment.

  8. [Case of exploding head syndrome].

    Science.gov (United States)

    Okura, Mutsumi; Taniguchi, Mitsutaka; Muraki, Hisae; Sugita, Hideko; Ohi, Motoharu

    2010-01-01

    Exploding head syndrome (EHS) attacks are characterized by the sensation of sudden loud banging noises, and are occasionally accompanied by the sensation of a flash light. Although these attacks in themselves are usually not painful, it is reported that EHS attacks may precede migraines and may be perceived as auras. A 53-year-old woman, with a 40-year history of fulgurating migraines, experienced 2 different types of EHS attacks. During most of the attacks, which were not painful, she heard sounds like someone yelling or cars passing by. Only 1 episode was accompanied with the sensation of a flash light and of sounds similar to those of an electrical short circuit. On the video-polysomnography, video-polysomnography showed 11 EHS attacks occurred during stage N1 and stage N2; these attacks were preceded by soft snoring. She also had moderate obstructive sleep apnea syndrome (Apnea Hypopnea Index: 16.7) for which an oral appliance was prescribed; the EHS attacks did not recur after this treatment. The pathophysiology of EHS is still unclear. A detailed analysis of PSG data may help in understanding the pathophysiology of this syndrome and also in the selection of therapeutic strategies.

  9. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis.

  10. Heerfordt Syndrome: A Case Report

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    Füsun Mayda Domaç

    2010-09-01

    Full Text Available Heerfordt syndrome is a form of neurosarcoidosis with the combination of fever, enlargement of the parotid gland, anterior uveitis, and facial nerve paralysis. We present a 38-year-old female patient who had a solid and painful swelling behind each ear 20 days after the complaints of redness of both eyes, fatigue, night sweat, and weight loss. Three weeks later, right facial paralysis developed, and the patient was seen in our outpatient clinic. On physical examination, bilateral solid and painful masses were observed on the parotid glands. Neurological examination was normal except for the right facial nerve paralysis. Ophthalmologic examination revealed bilateral anterior uveitis. Cranial magnetic resonance imaging was normal. On parotid gland magnetic resonance imaging, enlargement, lobulation and cystic lesions on both parotid glands with heterogeneous contrast involvement were observed. Parotid biopsy showed non-necrotizing granulomatous sialadenitis. There were multiple nodules on both lungs on mediastinum computerized tomography. Laboratory tests revealed: C-reactive protein 0.75 mg/dL, erythrocyte sedimentation rate 26 mm/hour and angiotensin-converting enzyme 83 U/L (N: 8-52 U/L Though the patient, diagnosed as Heerfordt syndrome, had phase 1 sarcoidosis, she was treated with 45 mg/day steroid because of the multiple organ involvement. In conclusion, Heerfordt syndrome, a rare manifestation of neurosarcoidosis, must be kept in mind in the differential diagnosis of facial nerve paralysis

  11. Antiphospholipid syndrome: A case study

    International Nuclear Information System (INIS)

    Davies, T.

    1998-01-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient''s high risk of strokes and hemorrhaging prompted investigation by a 99 mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome

  12. Antiphospholipid syndrome: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Davies, T. [Royal Adelaide Hospital, Adelaide, SA (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: A forty-two-year-old male presented to the Royal Adelaide Hospital with symptoms of increasing shortness of breath, swelling in both ankles, petechial rash and blood in his sputum. Initial investigations showed cardiomegaly, right ventricular hypertrophy, patchy lung infiltrates, a platelet count of 1500 and a clotting time of 60 seconds. A V/Q scan indicated a high probability of pulmonary embolism. Further investigations showed that the patient was positive for lupus anticoagulant and cardiolipin antibodies. A diagnosis of primary antiphospholipid syndrome was made. The patient``s high risk of strokes and hemorrhaging prompted investigation by a {sup 99}mTc-HMPAO brain scan. Further V/Q scans were performed to follow up the initial finding of multiple pulmonary embolism and a R-L shunt study was performed to investigate a left subclavian murmur. The patient was admitted for four weeks and began treatment which included cyclaphosphamide, corticosteroids and plasmaphoresis and was discharged when stable. Over the next six months he was re admitted three times for relapse of antiphospholipid syndrome. On his fourth admission he collapsed and died five hours after admission. Cause of death was due to cardiac arrhythmia secondary to severe right ventricular hypertrophy and dilation. The effects of antiphospholipid syndrome was believed to be responsible for this outcome.

  13. Pfeiffer syndrome type 2: case report

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    Maria Kiyoko Oyamada

    Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

  14. Idiopathic Harlequin syndromecase report

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    Marcelina Grochowiec

    2015-09-01

    Full Text Available Introduction. Harlequin syndrome is a very rare neurological condition characterized by redness and excessive sweating of one half of the face in response to exercise and emotions. In most cases this disorder is not life-threatening. Objective. To present diagnostic difficulties of Harlequin syndrome in dermatological practice. Case report. We present a case of a 30-year-old man with redness and excessive sweating of the right half of the face as a result of exercise that was observed during the diagnosis of chronic urticaria at the Department of Dermatology. The patient was examined ophthalmologically and neurologically, had a CT scan of the head, and the Minor test performed. Idiopathic Harlequin syndrome was diagnosed based on case history and workup results. Conclusions . Harlequin syndrome occurs most often in the form of an idiopathic condition, but neurologic and ophthalmologic assessment should be performed since some diseases, such as brainstem infarction and schwannoma of the upper chest, may initially appear as Harlequin syndrome.

  15. [Occupational carpal tunnel syndrome: 27 cases].

    Science.gov (United States)

    Slimane, Neila Ben; Elleuch, Mohamed; Gharbi, Ezzedine; Babay, Habib; Hamdoun, Moncef

    2010-09-01

    Carpal tunnel syndrome is the most frequent of tunnel syndromes in the field of the professional sphere. It is related to repetitive movements of flexion-extension of the wrist and fingers or to a support on the heel of the hands. To determine the posts in a risk and to specify the modalities of guaranteed reimbursement of professional carpal tunnel syndrome. A retrospective and descriptive study of 27 medical files of employees indemnified for professional carpal tunnel syndrome registered in the medical control services of the social security office in charge of medical insurance of Tunis and Sousse during a period of 10 years (1995-2004). There were 24 women and 3 men with the average age of 40 years all occupying posts in a risk. Their average time of service is 15 years. Tow-thirds of them work in the clothing and textile industry. The attack is bilateral in 13 cases. Nightly acroparaesthesia rules the clinical rate (44.44% of cases). Motor disorders are noted in the quarter of cases. The electromyogram had confirmed diagnosis in all of cases. The previous state study put in evidence the antecedent of carpal tunnel syndrome in 5 cases and diabetes in one case. Twenty-one patients had profit of permanent partial incapacity with a rate varying from 3 to 25%. Five had got a transfer of working place and one stayed in the same post with a half-time work. The professional origin of carpal tunnel syndrome must be called up in front of an activity in a risk. The reparation is done according to picture 82 of occupational diseases.

  16. A Case of Male Goltz Syndrome

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    Bhaswati Ghoshal

    2012-01-01

    Full Text Available We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia, a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.

  17. Kleine–Levin Syndrome: A case report

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    Taís Figueiredo de Araújo Lima

    2014-06-01

    Full Text Available The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

  18. Rapunzel syndrome: a rare postpartum case.

    Science.gov (United States)

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

    2013-01-01

    The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  19. Rapunzel Syndrome: A Rare Postpartum Case

    Directory of Open Access Journals (Sweden)

    Teshome Tegene

    2013-01-01

    Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  20. A Case with Cramp-Fasciculation Syndrome

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    Pinar Yalinay Dikmen

    2014-12-01

    Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

  1. A case Report of Wolfram Syndrome

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    Zahra Razavi

    2007-01-01

    Full Text Available Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness. It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family.

  2. Autoerythrocyte Sensitization Syndrome: A Case Report

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    Pinar Ozuguz

    2014-04-01

    Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

  3. A case of subwakefulness syndrome.

    Science.gov (United States)

    Hisanaga, A; Tsutsumi, M; Yasui, S; Fukuda, H; Tachibana, H; Hagino, H; Okabe, A; Mita, T; Saitoh, O; Kurachi, M

    1998-04-01

    We report a patient, a 30-year-old male Japanese-Brazilian migrant construction worker, suffering from excessive daytime sleepiness for at least 6 months. Electroencephalogram recordings during his waking states showed that 10-Hz and 60-microV alpha activity was present prominently in the occipital regions. From the multiple sleep latency test, it was found that stages 1-2 NREM sleep episodes appeared repetitively without any REM episodes, and that the mean sleep latency was 10.2 min. These findings support the diagnosis that this patient suffers from subwakefulness syndrome.

  4. Neonatal Marfan syndrome: Report of two cases.

    Science.gov (United States)

    Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

    2017-07-01

    Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

  5. Ortner's syndrome: case series and literature review.

    Science.gov (United States)

    Subramaniam, Vijayalakshmi; Herle, Adarsha; Mohammed, Navisha; Thahir, Muhammad

    2011-01-01

    More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to encompass any nonmalignant, cardiac, intrathoracic process that results in embarrassment of either recurrent laryngeal nerve-usually by stretching, pulling, or compression; and causes vocal fold paralysis. Not surprisingly, the left recurrent laryngeal nerve, with its longer course around the aortic arch, is more frequently involved than the right nerve, which passes around the subclavian artery. To discuss the pathogenesis of hoarseness resulting from cardiovascular disorders involving the recurrent laryngeal nerve along with the findings of literature review. This paper reports a series of four cases of Ortner's syndrome occurring due to different causes. Case study. Ortner's syndrome could be a cause of hoarseness of voice in patients with cardiovascular diseases. Although hoarseness of voice is frequently encountered in the Otolaryngology outpatient department, cardiovascular- related hoarseness is an unusual presentation. Indirect laryngoscopy should be routinely performed in all cases of heart disease.

  6. Clinical case definition for the diagnosis of acute intussusception.

    Science.gov (United States)

    Bines, Julie E; Ivanoff, Bernard; Justice, Frances; Mulholland, Kim

    2004-11-01

    Because of the reported association between intussusception and a rotavirus vaccine, future clinical trials of rotavirus vaccines will need to include intussusception surveillance in the evaluation of vaccine safety. The aim of this study is to develop and validate a clinical case definition for the diagnosis of acute intussusception. A clinical case definition for the diagnosis of acute intussusception was developed by analysis of an extensive literature review that defined the clinical presentation of intussusception in 70 developed and developing countries. The clinical case definition was then assessed for sensitivity and specificity using a retrospective chart review of hospital admissions. Sensitivity of the clinical case definition was assessed in children diagnosed with intussusception over a 6.5-year period. Specificity was assessed in patients aged clinical case definition accurately identified 185 of 191 assessable cases as "probable" intussusception and six cases as "possible" intussusception (sensitivity, 97%). No case of radiologic or surgically proven intussusception failed to be identified by the clinical case definition. The specificity of the definition in correctly identifying patients who did not have intussusception ranged from 87% to 91%. The clinical case definition for intussusception may assist in the prompt identification of patients with intussusception and may provide an important tool for the future trials of enteric vaccines.

  7. Revised surveillance case definition for HIV infection--United States, 2014.

    Science.gov (United States)

    2014-04-11

    Following extensive consultation and peer review, CDC and the Council of State and Territorial Epidemiologists have revised and combined the surveillance case definitions for human immunodeficiency virus (HIV) infection into a single case definition for persons of all ages (i.e., adults and adolescents aged ≥13 years and children aged case now accommodate new multitest algorithms, including criteria for differentiating between HIV-1 and HIV-2 infection and for recognizing early HIV infection. A confirmed case can be classified in one of five HIV infection stages (0, 1, 2, 3, or unknown); early infection, recognized by a negative HIV test within 6 months of HIV diagnosis, is classified as stage 0, and acquired immunodeficiency syndrome (AIDS) is classified as stage 3. Criteria for stage 3 have been simplified by eliminating the need to differentiate between definitive and presumptive diagnoses of opportunistic illnesses. Clinical (nonlaboratory) criteria for defining a case for surveillance purposes have been made more practical by eliminating the requirement for information about laboratory tests. The surveillance case definition is intended primarily for monitoring the HIV infection burden and planning for prevention and care on a population level, not as a basis for clinical decisions for individual patients. CDC and the Council of State and Territorial Epidemiologists recommend that all states and territories conduct case surveillance of HIV infection using this revised surveillance case definition.

  8. Sjogren’s syndrome: a case report

    Science.gov (United States)

    Sunata, A.; Marpaung, B.

    2018-03-01

    The incidence of Sjogren’s Syndrome was estimated 4 in 100.000 of these cases with the prevalence is 0.2% to 2.7% of the population. Predominant sex female/male ratio is approximately 10:1 with peak incidence is in the fourth and fifth decade. A 29-year-old woman had dry eyes and recurrent sensation of sand in the eyes for two years. Schimmer’s test was positive ≤5mm in 5 minutes both, and the autoantibodies SSA and SSB were positive. Without history head or neck radiation and the result of laboratory examination hepatitis C and HIV negative. Until now there is no satisfying therapy for Sjogren Syndrome, only supportive specific to symptomatic can be treated. We reported a case of Sjogren Syndrome with dry eyes symptom, polyathralgia, and fatigue. Muscarinic agonist pilocarpine 5mg PO qid and hydroxychloroquine were given.

  9. Chanarin Dorfman Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Yasemin Ozkale

    2015-09-01

    Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

  10. A Case of Bardet-Biedl Syndrome

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    katayon Etemadi

    2007-09-01

    Full Text Available Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnormalities and hypogonadism. Renal failure is the major cause of death in homozygote patients, with chronic glomerolopathy that cause chronic renal disease. Secondary features are: speech disorder delay, developmental delay, polyuria, diabetes mellitus and hypertension. The diagnosis of Bardet- Biedl syndrome is established by clinical findings. Twelve genes are known to be associated with Bardet Biedl syndromes: BBS1, BBS2… BBS12. Case presentation: In this article we report a four and half year old boy that have Bardet Biedl syndrome as a result of a consanguine marriage (third degree. Conclusion: A monogenic syndrome such as Bardet Biedl has a lot of symptoms. These symptoms are out put of a mutation in locus of a recessive allel. Therefore people like to marry consanguinly have to do genetic counseling before marriage. Because analysis of family history will reduced the risk of such syndromes.

  11. Dyke Davidoff Masson Syndrome: A case report

    Directory of Open Access Journals (Sweden)

    More Sumeet S, Jadhav Aravinash L, Garkal Shailendra M, Tewari Suresh C

    2013-04-01

    Full Text Available Dyke-Davidoff-Masson syndrome (DDMS is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. We report a case of DDMS in an 18years old girl who presented with a history of generalized tonic – clonic seizures, hemiparesis and hemiatrophy of right side.

  12. Hermansky-Pudlak syndrome: A case report

    Directory of Open Access Journals (Sweden)

    R Vani

    2014-01-01

    Full Text Available Hermansky-Pudlak syndrome (HPS is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin. The major complications of this disorder are pulmonary fibrosis (PF and colitis. This is a case report of an HPS patient with PF.

  13. A rare case of Charlin's syndrome

    Directory of Open Access Journals (Sweden)

    Mohit P Singh

    2017-01-01

    Full Text Available Charlin's syndrome is an extremely rare condition characterized by pain in the nasal and paranasal areas, which is precipitated by touching the lateral aspect of the ipsilateral nostril. We are presenting one such case of a 42-year-old man who was admitted to Dr. Chaudhary Hospital and Medical Research Centre.

  14. [Fournier syndrome: report of a clinical case].

    Science.gov (United States)

    La Torre, F; Otti, M; Ruggeri, E; Taglienti, D; Bonanno, L; Bianchini, G P; Veneroso, S; Tintisona, O; Monti, M

    2001-01-01

    The case of a Fournier's syndrome in a 58 years old patient is reported from the Authors that describe the ethiopathogenetic and therapeutic aspects. They analyse the importance of an early surgical treatment associated with antibiotic therapy and later a riparation of the lesions with a myocutaneous skin flap of TLF.

  15. An unusual case of the Capgras syndrome.

    Science.gov (United States)

    Fialkov, M J; Robins, A H

    1978-04-01

    A variant of the Capgras syndrome is described in a 43-year-old woman who had vitiligo and multinodular goitre. The unusual feature of the case was that the patient not only misidentified members of her own family but also claimed that she herself had been replaced by a double.

  16. Laugier-Hunziker syndrome: A case report.

    Science.gov (United States)

    Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

    2018-04-01

    Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  17. Treating a case of Savant syndrome

    OpenAIRE

    Busuttil, Joseph

    1994-01-01

    Memory and artistic prodigies among the population at large are uncommon; among the mentally retarded, they are rarer still. This article describes the treatment of such a case, technically known as the Savant Syndrome, seen by occupational therapists at Mount Carmel Psychiatric Hospital and treated over a period of 18 years.

  18. Hoffmann's syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Ibrahim, Mohammad

    2005-07-01

    Full Text Available This syndrome is characterized by the presence of hypothyroidism with myxoedema, muscle stiffness and pseudo hypertrophy. We describe the disorder in a 21 year old male, who got admitted with complaints of generalized weakness, cold intolerance, constipation, and hoarse voice, difficulty in walking and progressive enlargement of muscles of thighs and back with crampy pains for two years. Examination revealed mild mental retardation, enlarged tongue, dry and rough skin, enlargement of thighs and back muscles, motor weakness in flexors of hips and knees with delayed relaxation of deep tendon reflexes. Investigations revealed evidence of hypothyroidism with marked elevation of muscle enzymes. Following institution of replacement therapy with thyroxine, the patient showed marked clinical and biochemical improvements after six months, but insignificant decrease in muscle mass. In this report we review relevant literature.

  19. A case of Tricorhinophalangeal syndrome

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    Hatice Erdi Şanlı

    2014-09-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is a rare autosomal dominant disorder characterized by craniofacial and various skeletal abnormalities. TRPS type 1 differs from type 2 by the absence of mental retardation and exocytosis and from type 3 by the absence of shortening in generalized phalanges, metacarpals and metatarsals. Systemic symptoms, such as renal and cardiac defects, growth retardation and mental retardation may accompany TRFS. Herein, we present a 10-year-old girl who was diagnosed with TRPS type 1 accompanied by sparse, weak and slow-growing hair since birth, thinning of the lateral portion of the eyebrows, long philtrum, pear-shaped nose with a typical triangular facial appearance, camptodactyly of the finger joints, in radiological evaluation, cone-shaped epiphyses in hands and feet phalanges, and malocclusion. The patient was with normal cytogenetic, no deletion of 8q24 was detected.

  20. Ambras syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    A Ishita

    2016-01-01

    Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

  1. Establishment of Valid Laboratory Case Definition for Human Leptospirosis

    NARCIS (Netherlands)

    M.G.A. Goris (Marga); M.M.G. Leeflang (Mariska); K.R. Boer (Kimberly); M. Goeijenbier (Marco); E.C.M. van Gorp (Eric); J.F.P. Wagenaar (Jiri); R.A. Hartskeerl (Rudy)

    2011-01-01

    textabstractLaboratory case definition of leptospirosis is scarcely de ned by a solid evaluation that determines cut-off values in the tests that are applied. This study describes the process of determining optimal cut-off titers of laboratory tests for leptospirosis for a valid case definition of

  2. Comparison of the Berlin definition with the American European consensus definition for acute respiratory distress syndrome in burn patients.

    Science.gov (United States)

    Bordes, Julien; Lacroix, Guillaume; Esnault, Pierre; Goutorbe, Philippe; Cotte, Jean; Dantzer, Eric; Meaudre, Eric

    2014-06-01

    Acute respiratory distress syndrome (ARDS) is a leading cause of mortality in burn patients. Smoke inhalation, pneumonia and inflammation process are the major causes of ARDS in burn patients. The American European Consensus Conference (AECC) definition proposed in 1994 has recently been revised by the Berlin definition. Our objective was to describe the epidemiology of ARDS comparing the Berlin definition with the AECC definition in a retrospective cohort of burn patients. We reviewed admitted burn adult patients for a two year period, and investigated patient who received mechanical ventilation for more than 48 h and in whom pneumonia was diagnosed. 40 patients were analyzed. According to the AECC definition, 11 patients met criteria for ALI (27.5%), and 29 patients for ARDS (72.5%). According to the Berlin definition, all patients met criteria for ARDS: 4 (10%) for a severe ARDS, 25 (62.5%) for a moderate ARDS, 11 (27.5%) for a mild ARDS. Inhalation injury was diagnosed in 10 patients (25%). Categorizing patients with the Berlin definition showed statistically significative difference of mortality within the three groups, but not with the AECC definition. The Berlin definition seems to be more accurate than the AECC definition to assess the severity of ARDS in term of outcome in burn patients. This definition may facilitate prompt recognition of ARDS in burn patients, and promote protective ventilation strategy to a larger number of patients. Copyright © 2014 Elsevier Ltd and ISBI. All rights reserved.

  3. Nicolau Syndrome after Intramuscular Injection: 3 Cases

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    Seok-Kwun Kim

    2012-05-01

    Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemic necrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristic pattern is pain around the injection site, developing into erythema, a livedoid dermatitis patch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients were injected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patients complained of pain, and a skin lesion was observed, after which necrosis developed on their buttocks. Each patient underwent debridement and coverage. The wound healed uneventfully. We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscular injection.

  4. Peutz-Jehgers syndrome (A case report)

    International Nuclear Information System (INIS)

    Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik

    1974-01-01

    This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature

  5. Nicolau Syndrome after Intramuscular Injection: 3 Cases

    Directory of Open Access Journals (Sweden)

    Seok-Kwun Kim

    2012-05-01

    Full Text Available Nicolau syndrome is a rare complication of intramuscular injection consisting of ischemicnecrosis of skin, soft tissue, and muscular tissue that arises locoregionally. The characteristicpattern is pain around the injection site, developing into erythema, a livedoid dermatitispatch, and necrosis of the skin, subcutaneous fat, and muscle tissue. Three patients wereinjected with drugs (diclofenac sodium, ketoprofen, meperidine for pain relief. Three patientscomplained of pain, and a skin lesion was observed, after which necrosis developed on theirbuttocks. Each patient underwent debridement and coverage. The wound healed uneventfully.We report three cases of Nicolau syndrome in the buttocks following diclofenac intramuscularinjection.

  6. [Anticonvulsant Hypersensitivity Syndrome: A Case Report].

    Science.gov (United States)

    Valderrama Escudero, Felipe; Montoya González, Laura Elisa

    2014-01-01

    DRESS syndrome (skin reaction with eosinophilia and systemic symptoms) is an idiosyncratic drug reaction characterized by rash, fever, lymphadenopathy, and internal organ dysfunction. This case report is on a patient with bipolar affective disorder who presented with a systemic inflammatory response associated with the use of valproic acid, and an important activation of symptoms when used with other drugs with a different pharmacological action mechanism. The diagnosis of DRESS syndrome is primarily by exclusion, and its detection may be difficult, which could potentially become fatal for the patient. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  7. Neonatal marfan syndrome: report of two cases.

    Science.gov (United States)

    Ghandi, Yazdan; Zanjani, Keyhan S; Mazhari-Mousavi, Seyed-Eshagh; Parvaneh, Nima

    2013-02-01

    Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age. We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis. Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.

  8. Peutz-Jehgers syndrome (A case report)

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Byoung Geun; Park, Heung Il; Kwun, Chung Sik [Chonnam University School of Medicine, Kwangju (Korea, Republic of)

    1974-10-15

    This is a report of rare case of Peutz-Jehgers syndrome in a 13 years old boys with chief complaints of melena and intermittent abdominal pain since 3 years of age. He has multiple small melanin pigmentations in the face, lower lip, and left buccal mucosa and numerous small and large polyps in the stomach, jejunum, ileum, colon, and rectum by roentgenologic studies. Hereditary features, mucocutaneous pigmentations, clinical manifestations, pathologic features, roentgen features, and differential diagnosis, and treatment of Peutz-Jehgers syndrome are discussed with a review of the literature.

  9. Seckel syndrome: A rare case report

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    Rinky Sisodia

    2014-01-01

    Full Text Available Seckel syndrome (SS is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor psychomotor development. This case report presents an 8-year-old child with SS born to parents, exposed in Bhopal gas disaster.

  10. A case report of Halzon syndrome

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    Montazeri A

    1997-07-01

    Full Text Available Report of two cases from Halzon syndrome (Tabriz-1996-97. One mother and her daughter ten minutes after eating from raw or half-ripe sheep gut (bowel, showed clinical demonstration of Halzon syndrome. Clinical aspects included: nasal, ear, frontal, and throat pruritis; oral and nasal discharge, caugh, headache, vertigo and mucoid sputum. One day after beginning of this signs and symptoms, some small white worms in 4-6 mm size, discharge from nose and mouth of patients. These worms in laboratory study, were diagnosed as nymph of linguatula serrata

  11. A case of Swyer-James syndrome

    International Nuclear Information System (INIS)

    Suzuki, Toshimitsu; Ohtani, Naoshi; Kimura, Sohichi; Izuchi, Rokuro; Iio, Masaaki; Fujinami, Kenji.

    1982-01-01

    Infantile infections are thought to constitute one of the main bases of the etiology of Swyer-James syndrome. This case seems to support the above theory allowing for the anamnesis of the pleuritis at 2 years of age, bronchographical findings - bilateral but markedly left-sided bud-like bronchiectatic changes - and left pulmonary angiographical findings - simultaneous appearance of pulmonary arteries and veins with scarce capillary image. Concerning the ventilation of this syndrome, 133 Xe inhalation test showed a ''Pendelluft'' phenomenon, shift of 133 Xe from the healthy to the affected lung on forced expiration. (author)

  12. Stewart-Treves syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Andrade, Wesley Pereira [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Mastology Dept.], e-mail: wesley.andrade@hotmail.com; Aguiar Junior, Samuel; Lopes, Ademar [Hospital A.C. Camargo, Sao Paulo, SP (Brazil). Pelvic Surgery Dept.; Batista, Ranyell Matheus Spencer S.; Ribeiro, Marcio Ventura [Hospital A.C. Camargo, Sao Paulo, SP (Brazil)

    2008-07-01

    In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

  13. Stewart-Treves syndrome: case report

    International Nuclear Information System (INIS)

    Andrade, Wesley Pereira

    2008-01-01

    In 1948 Stewart and Treves described a syndrome related to the association between lymphangiosarcoma and chronic lymphedema due to radical mastectomy and radiotherapy. Currently, literature data reveals around 400 published cases. However, this pathology is becoming each time rarer due to the growing indication of conservative breast surgery and sentinel lymphonode research, thus reducing the need of axillary lymph node dissection with subsequent lymphedema. Described will be the case of a woman that developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy.Stewart-Treves syndrome is related to the rise of angiosarcoma in patients with chronic lymphedema. It is currently treated as a rare disease. We describe the case of a woman who developed angiosarcoma in shoulder 17 years after mastectomy with adjuvant radiotherapy. (author)

  14. A strange case of Evans syndrome

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    Manuel Monti

    2013-12-01

    Full Text Available Evans syndrome is a rare autoimmune disease presenting hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. It can have an extremely serious disease course and, in rare cases, this can even be life-threatening. First-line treatment consists of steroids and/or immunoglobulin. Further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We report a case of Evans syndrome in a 54-year old woman admitted to the Emergency Department (ED for asthenia. Etiopathogenic, clinical, therapeutic and evolutive aspects are discussed. In contrast to many cases described in the literature, our patient had a satisfactory response to corticoids. We also discuss how to make a specific diagnosis, even in a suburban ED with limited resources, in order to admit patients to the appropriate hospital department and allow the correct therapy to be started as early as possible.

  15. Imaging findings in PHACES syndrome. Case report

    International Nuclear Information System (INIS)

    Montes J, Natalia; Vargas V, Sergio; Gomez C, Christhian

    2010-01-01

    Capillary hemangiomas of infancy are the most common childhood tumors, mainly in children under 1 year old, and they usually involve the head and neck. They are usually solitary, but about 20% of the children with large cervicofacial hemangiomas will have one of the anomalies associated with PHACES syndrome. PHACES is a rare neuro cutaneous syndrome with female predominance and features such as: brain malformations in the posterior fossa, hemangiomas, arterial anomalies, coarctation of the aorta, heart defects, and ocular abnormalities. When associated with sternal slit and/or supra umbilical Raphe, it is referred to as PHACES syndrome. The case of a 4-year-old child with congenital facial hemangioma associated to the posterior fossa and with cerebral vascular anomalies is presented.

  16. Gorlin Goltz syndrome: A clinicopathological case report

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    Shobha C Bijjaragi

    2014-01-01

    Full Text Available The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

  17. PLATEAU IRIS SYNDROME--CASE SERIES.

    Science.gov (United States)

    Feraru, Crenguta Ioana; Pantalon, Anca Delia; Chiselita, Dorin; Branisteanu, Daniel

    2015-01-01

    Plateau iris is characterized by closing the anterior chamber angle due to a large ciliary body or due to its anterior insertion that alters the position of iris periphery in respect to the trabecular meshwork. There are two aspects that need to be differentiated: plateau iris configuration and plateau iris syndrome. The first describes a situation when the iris root is flat and the anterior chamber is not shallow, the latter refers to a post laser iridotomy condition in which a patent iridotomy has removed the relative pupillary block, but goniscopically confirmed angle closure recurs without central shallowing of the anterior chamber. Isolated plateau iris syndrome is rare compared to plateau iris configuration. We hereby present two case reports of plateau iris syndrome in young patients who came to an ophthalmologic consult by chance.

  18. Scoliosis in Steinert syndrome: a case report.

    Science.gov (United States)

    Themistocleous, George S; Sapkas, George S; Papagelopoulos, Panayiotis J; Stilianessi, Eugenia V; Papadopoulos, Elias Ch; Apostolou, Constantinos D

    2005-01-01

    Steinert syndrome is described as an autosomal dominant condition characterized by progressive muscular wasting, myotonia, musculoskeletal manifestations and rare spinal defects. Little is reported about spinal deformity associated with this syndrome. We present a patient with Steinert syndrome complicated by scoliosis. In the literature on muscular dystrophy, other than Duchenne, little mention is given to the problem of scoliosis in general and its treatment in particular. A case report of a patient with Steinert syndrome associated with thoracic scoliosis and hypokyphosis is presented. A 17-year-old boy presented with King type II right thoracic scoliosis (T5-T11, Cobb angle of 40 degrees) and hypokyphosis--10 degrees. He was treated with posterior stabilization and instrumentation at level T3-L2 with a postoperative correction of the scoliotic curve to 20 degrees. Histopathologic examination of the muscles confirmed the diagnosis of Steinert myotonic dystrophy. At 30-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction. Scoliosis in Steinert syndrome shares the characteristic of an arthrogrypotic neuromuscular curve and demands the extensive soft tissue release for optimal surgical correction. Intraoperative observations included profound tissue bleeding, abnormally tough soft tissues and a difficult recovery from anaesthesia.

  19. Acute respiratory distress syndrome 40 years later: time to revisit its definition.

    Science.gov (United States)

    Phua, Jason; Stewart, Thomas E; Ferguson, Niall D

    2008-10-01

    Acute respiratory distress syndrome is a common disorder associated with significant mortality and morbidity. The aim of this article is to critically evaluate the definition of acute respiratory distress syndrome and examine the impact the definition has on clinical practice and research. Articles from a MEDLINE search (1950 to August 2007) using the Medical Subject Heading respiratory distress syndrome, adult, diagnosis, limited to the English language and human subjects, their relevant bibliographies, and personal collections, were reviewed. The definition of acute respiratory distress syndrome is important to researchers, clinicians, and administrators alike. It has evolved significantly over the last 40 years, culminating in the American-European Consensus Conference definition, which was published in 1994. Although the American-European Consensus Conference definition is widely used, it has some important limitations that may impact on the conduct of clinical research, on resource allocation, and ultimately on the bedside management of such patients. These limitations stem partially from the fact that as defined, acute respiratory distress syndrome is a heterogeneous entity and also involve the reliability and validity of the criteria used in the definition. This article critically evaluates the American-European Consensus Conference definition and its limitations. Importantly, it highlights how these limitations may contribute to clinical trials that have failed to detect a potential true treatment effect. Finally, recommendations are made that could be considered in future definition modifications with an emphasis on the significance of accurately identifying the target population in future trials and subsequently in clinical care. How acute respiratory distress syndrome is defined has a significant impact on the results of randomized, controlled trials and epidemiologic studies. Changes to the current American-European Consensus Conference definition are

  20. Basal cell nevus syndrome: 2 case reports

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Seo, Yo Seob; Kim, Jin Soo

    2008-01-01

    The basal cell nevus syndrome (BCNS) is an autosomal dominant disorder, characterized by basal cell carcinomas, odontogenic keratocysts and skeletal abnormalities. We experienced two cases that represented several characteristics of BCNS. Case 1: a thirty three year-old man visited CSU hospital. His radiographs showed four cystic lesions at both maxillary sinus and both mandibular angle, with bifid rib and ectopic calcification of falx cerebri. After marsupialization and enucleation, recurrent and newly developing tendency were found on his follow-up radiographs. Case 2: a seventeen year-old man had four large cystic lesions which were diagnosed as odontogenic keratocysts. He had craniofacial anomalies which included ectopic calcification and frontal bossing.

  1. An unusual case of ectopic ACTH syndrome.

    Science.gov (United States)

    Willhauck, M J; Pöpperl, G; Rachinger, W; Giese, A; Auernhammer, C J; Spitzweg, C

    2012-02-01

    Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult. This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and pituitary did not reveal the source of ACTH secretion. In consideration of an occult source of ACTH secretion we started a therapeutic trial with cabergoline (0.5 mg/d), a dopamine receptor agonist, which has been shown to be effective in ectopic Cushing's syndrome. 2 months after cabergoline treatment had been initiated, ACTH and cortisol levels normalized in association with significant improvement of the clinical symptoms. During follow-up a [(68)Ga-DOTA-dPhe(1), Tyr(3)]-octreotate ([(68)Ga-DOTA]-TATE) PET-CT was performed revealing a somatostatin receptor positive lesion in the right sphenoidal sinus suggesting the source of ACTH secretion. The patient was cured by transnasal resection of the polypoid lesion, which was immunohistochemically characterized as an ACTH-positive neuroendocrine tumor. This case report demonstrates the management of ectopic ACTH-syndrome by molecularly -targeted therapy with dopamine receptor -agonists as well as improved detection of the ectopic ACTH source by novel imaging modalities, such as [(68)Ga-DOTA]-TATE PET specifically targeting somatostatin receptor subtype-2 with high affinity. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

  2. Intrapartum diagnostic of Roberts syndrome - case presentation.

    Science.gov (United States)

    Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

    2015-01-01

    Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

  3. Cardiorenal metabolic syndrome in the African diaspora: rationale for including chronic kidney disease in the metabolic syndrome definition.

    Science.gov (United States)

    Lea, Janice P; Greene, Eddie L; Nicholas, Susanne B; Agodoa, Lawrence; Norris, Keith C

    2009-01-01

    Chronic kidney disease (CKD) is more likely to progress to end-stage renal disease (ESRD) in African Americans while the reasons for this are unclear. The metabolic syndrome is a risk factor for the development of diabetes, cardiovascular disease, and has been recently linked to incident CKD. Historically, fewer African Americans meet criteria for the definition of metabolic syndrome, despite having higher rates of cardiovascular mortality than Caucasians. The presence of microalbuminuria portends increased cardiovascular risks and has been shown to cluster with the metabolic syndrome. We recently reported that proteinuria is a predictor of CKD progression in African American hypertensives with metabolic syndrome. In this review we explore the potential value of including CKD markers--microalbuminuria/proteinuria or low glomerular filtration rate (GFR)-in refining the cluster of factors defined as metabolic syndrome, ie, "cardiorenal metabolic syndrome."

  4. Hermansky-Pudlak Syndrome: A Case Report

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    Ilhami Berber

    2014-01-01

    Full Text Available Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.

  5. Hermansky-Pudlak Syndrome: A Case Report

    Science.gov (United States)

    Berber, Ilhami; Erkurt, Mehmet Ali; Kuku, Irfan; Kaya, Emin; Koroglu, Mustafa; Gul, Mehmet; Bentli, Recep

    2014-01-01

    Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems. PMID:24707413

  6. Transient Bone Marrow Edema Syndrome (Case Report

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    Nilnur Konuralp

    2003-09-01

    Full Text Available Transient bone marrow edema syndrome (BMES is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms. Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester pregnancy in women. We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully.

  7. A Case Report of Maffucci Syndrome

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    Gh. Eshghi

    2013-01-01

    Full Text Available Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma causing deformity of fingers and toes with multiple vascular tumors (cavernous hemangioma in the distal upper and lower limbs. Entire laboratory investigations including thyroid function tests were normal. Cardiovascular ex-amination including EKG and echocardiography were also normal. The abnormal findings on brain CT SCAN with contrast were not observed. Angiographic and histologic stud-ies confirmed the cavernous hemangioma and radiography of fingers and toes approved bone lesions (enchondroma. Conclusion: A diagnosis of Maffucci syndrome was made by the above mentioned measures.(Sci J Hamadan Univ Med Sci 2013; 19 (4:82-85

  8. Acute aortic syndromes: definition, prognosis and treatment options.

    Science.gov (United States)

    Carpenter, S W; Kodolitsch, Y V; Debus, E S; Wipper, S; Tsilimparis, N; Larena-Avellaneda, A; Diener, H; Kölbel, T

    2014-04-01

    Acute aortic syndromes (AAS) are life-threatening vascular conditions of the thoracic aorta presenting with acute pain as the leading symptom in most cases. The incidence is approximately 3-5/100,000 in western countries with increase during the past decades. Clinical suspicion for AAS requires immediate confirmation with advanced imaging modalities. Initial management of AAS addresses avoidance of progression by immediate medical therapy to reduce aortic shear stress. Proximal symptomatic lesions with involvement of the ascending aorta are surgically treated in the acute setting, whereas acute uncomplicated distal dissection should be treated by medical therapy in the acute period, followed by surveillance and repeated imaging studies. Acute complicated distal dissection requires urgent invasive treatment and thoracic endovascular aortic repair has become the treatment modality of choice because of favorable outcomes compared to open surgical repair. Intramural hematoma, penetrating aortic ulcers, and traumatic aortic injuries of the descending aorta harbor specific challenges compared to aortic dissection and treatment strategies are not as uniformly defined as in aortic dissection. Moreover these lesions have a different prognosis. Once the acute period of aortic syndrome has been survived, a lifelong medical treatment and close surveillance with repeated imaging studies is essential to detect impending complications which might need invasive treatment within the short-, mid- or long-term.

  9. Exploding Head Syndrome: A Case Report

    OpenAIRE

    Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan

    2013-01-01

    Introduction: Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These ev...

  10. Laugier-Hunziker Syndrome: A Case Report

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    Demet Kartal

    2011-09-01

    Full Text Available Laugier-Hunziker syndrome (LHS is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. It is important to differentiate this condition from the pigmentary disorders of the oral mucosa. The correct clinical identification avoids the need for invasive investigations. A 32-year-old female presented with a number of variably sized, hyperpigmented macules over the oral mucosa and longitudinal melanonychia. Herein, we report a case of LHS and discuss the conditions related with pigmented mucocutaneous lesions.

  11. A case of peeling skin syndrome

    OpenAIRE

    Anil K Singhal; Devendra K Yadav; Bajrang Soni; Savita Arya

    2017-01-01

    Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparin...

  12. Ekiri syndrome: a report of 13 cases

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    Rahbarimanesh AA

    2009-02-01

    Full Text Available "nBackground: Ekiri syndrome or lethal toxic encephalopathy is a complication of shigellosis with dysentery, hyperpyrexia, seizures, headache and altered level of consiousness, which rapidly progresses to death. These children die at the beginning of the disease (8-48 hours from the beginning of symptoms, from brain edema. However they had no symptoms or signs of sepsis, dehydration, DIC or Hemolytic Uremic Syndrome (HUS. "nMethods: This survey is a case series study of children with Ekiri syndrome in Bahrami hospital from October 1998-2008 presented with loss of consciousness, colitis and high fever shortly after admission. Information about the patients was gathered from the documents according to physical signs and symptoms, lab data of those whom Ekiri syndrome had been diagnosed for them. Studied variables in this assessment were age, sex, fever, convulsions and loss of consciousness. Headache, encephalopathy, dehydration, elevated ICP, colitis, underline disease, stool, blood and CSF cultures. "nResults: The subjects contain 13 cases (10 male, 3 female, averaged 30/5 months of age. All had seizure, elevated ICP, encephalopathy and coma. All of the patients had fever between 39 and 40, averaged 39.5 degree of centigrade. Seven patients had headache and three ones was dehydrated. The first presentation symptom in three patients was gastroenteritis, in 9 was siezure and in 1 patient was headache. Stool culture in all patients was positive, but blood culture was positive in only one of them. CSF culture was negative in all of the patients. Mortality was 100%. "nConclusion: Symptoms, signs and presentation of Ekiri syndrome, a rare complication of infection with shigella, in the patients in Bahrami hospital was similar with the other studies beforehand in other countries. In this study, all the patients were died and supportive treatments were ineffective.

  13. CASE REPORT CASE CASE R Chilaiditi's syndrome demonstrated ...

    African Journals Online (AJOL)

    2009-11-19

    Nov 19, 2009 ... hemidiaphragm.1 This syndrome is a rare condition and most often an ... is usually asymptomatic3 but may present with abdominal pain, nau- .... of functional abnormalities; this was also our motivation for using such.

  14. Definitions Are Important: The Case of Linear Algebra

    Science.gov (United States)

    Berman, Abraham; Shvartsman, Ludmila

    2016-01-01

    In this paper we describe an experiment in a linear algebra course. The aim of the experiment was to promote the students' understanding of the studied concepts focusing on their definitions. It seems to be a given that students should understand concepts' definitions before working substantially with them. Unfortunately, in many cases they do…

  15. Case studies can support definitions of workplace innovation in practice

    NARCIS (Netherlands)

    Vaas, F.; Žiauberytė-Jakštienė, R.; Oeij, P.R.

    2017-01-01

    Many practitioners find it problematic to understand and describe workplace innovation (WPI). Whereas there are well-known definitions of WPI, these remain highly abstract. We argue that, for practitioners, case examples of WPI best practices can be a valuable addition to these definitions. In this

  16. Case definition and classification of leukodystrophies and leukoencephalopathies

    NARCIS (Netherlands)

    Vanderver, Adeline; Prust, Morgan; Tonduti, Davide; Mochel, Fanny; Hussey, Heather M.; Helman, Guy; Garbern, James; Eichler, Florian; Labauge, Pierre; Aubourg, Patrick; Rodriguez, Diana; Patterson, Marc C.; van Hove, Johan L. K.; Schmidt, Johanna; Wolf, Nicole I.; Boespflug-Tanguy, Odile; Schiffmann, Raphael; van der Knaap, Marjo S.

    2015-01-01

    An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. Thirteen experts at multiple institutions participated in iterative

  17. Case definition and classification of leukodystrophies and leukoencephalopathies

    NARCIS (Netherlands)

    Vanderver, A.; Prust, M.; Tonduti, D.; Mochel, F.; Hussey, H.M.; Helman, G.; Garbern, J.; Eichler, F.; Labauge, P.; Aubourg, P.; Rodriguez, D.; Patterson, M.C.; van Hove, J.LK.; Schmidt, J; Wolf, N.I.; Boespflug-Tanguy, O.; Schiffmann, R.; van der Knaap, M.S.

    2015-01-01

    Objective: An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. Method: Thirteen experts at multiple institutions participated

  18. Analysis of agreement among definitions of metabolic syndrome in nondiabetic Turkish adults: a methodological study

    Directory of Open Access Journals (Sweden)

    Bersot Thomas P

    2007-12-01

    Full Text Available Abstract Background We aimed to explore the agreement among World Health Organization (WHO, European Group for the Study of Insulin Resistance (EGIR, National Cholesterol Education Program (NCEP, American College of Endocrinology (ACE, and International Diabetes Federation (IDF definitions of the metabolic syndrome. Methods 1568 subjects (532 men, 1036 women, mean age 45 and standard deviation (SD 13 years were evaluated in this cross-sectional, methodological study. Cardiometabolic risk factors were determined. Insulin sensitivity was calculated by HOMA-IR. Agreement among definitions was determined by the kappa statistic. ANOVA and post hoc Tukey's test were used to compare multiple groups. Results The agreement between WHO and EGIR definitions was very good (kappa: 0.83. The agreement between NCEP, ACE, and IDF definitions was substantial to very good (kappa: 0.77–0.84. The agreement between NCEP or ACE or IDF and WHO or EGIR definitions was fair (kappa: 0.32–0.37. The age and sex adjusted prevalence of metabolic syndrome was 38% by NCEP, 42% by ACE and IDF, 20% by EGIR and 19% by WHO definition. The evaluated definitions were dichotomized after analysis of design, agreement and prevalence: insulin measurement requiring definitions (WHO and EGIR and definitions not requiring insulin measurement (NCEP, ACE, IDF. One definition was selected from each set for comparison. WHO-defined subjects were more insulin resistant than subjects without the metabolic syndrome (mean and SD for log HOMA-IR, 0.53 ± 0.14 vs. 0.07 ± 0.23, respectively, p 0.05, but lower log HOMA-IR values (p Conclusion The metabolic syndrome definitions that do not require measurement of insulin levels (NCEP, ACE and IDF identify twice more patients with insulin resistance and increased Framingham risk scores and are more useful than the definitions that require measurement of insulin levels (WHO and EGIR.

  19. H Syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  20. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  1. Prevalence of the metabolic syndrome among the Inuit in Greenland. A comparison between two proposed definitions

    DEFF Research Database (Denmark)

    Jørgensen, M.E.; Bjerregaard, P.; Gyntelberg, F.

    2004-01-01

    in Greenland. The examination included a 75-g oral glucose tolerance test (OGTT). Body mass index (BMI), waist circumference, waist-to-hip ratio and blood pressure were measured. Plasma glucose, serum insulin, lipids and urine albumin/creatinine ratio were measured. The metabolic syndrome was diagnosed...... and triglycerides, and lower mean values of high-density lipoprotein (HDL) cholesterol; among women, triglycerides were higher with the NCEP syndrome. CONCLUSION: The metabolic syndrome is common among Inuit using either the WHO definition or the proposed NCEP definition. The classification disagreement...

  2. Enamel renal syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    S V Kala Vani

    2012-01-01

    Full Text Available Enamel renal syndrome is a very rare disorder associating amelogenesis imperfecta with nephrocalcinosis. It is known by various synonyms such as amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lubinsky-MacGibbon syndrome. It is characterized by enamel agenesis and medullary nephrocalcinosis. This paper describes enamel renal syndrome in a female patient born in a consanguineous family.

  3. Moebius syndrome and narcolepsy: A case dissertation

    Directory of Open Access Journals (Sweden)

    Lídia Sabaneeff

    2014-03-01

    Full Text Available Moebius syndrome (MS is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.

  4. An atypical case of Reye's syndrome

    International Nuclear Information System (INIS)

    Maehara, Fumiaki; Goto, Katsuya; Okudera, Toshio; Mitsudome, Akihisa; Hara, Kunio; Shiraishi, Masayuki

    1982-01-01

    An atypical case of Reye's syndrome was reported with emphasis on usefulness of CT for the diagnosis and follow-up study of this disease. The patient was a 13-month-old girl who had been transferred to our hospital because of status epilepticus, a comatous state and a high temperature. She was diagnosed as having Reye's syndrome according to data of liver function tests, findings in CSF and body CT which revealed swelling of the liver with diminished attenuation value suggesting fatty infiltration. However, there were atypical features in this patient: epileptic seizures since age 5 months, no vomiting at the time of onset and no evidence of brain swelling on CT in acute phase. She was discharged 2 months later with impaired neuropsychological functions of marked degree. When she was 2 year-old, she again went into status epilepticus, was comatous and had a high temperature. She was dead when she arrived at emergency room of our hospital. Autopsy findings revealed features of Reye's syndrome as follows: abundant accumulation of small fat droplets without nuclear displacement in the liver, fatty infiltration in the kidney and myocardium, and mild swelling in the cerebral cortex with marked ventricular dilatation. The possibility of recurrence of Reye's syndrome was discussed based on the clinical and autopsy findings. The value of CT in the diagnosis and the follow-up study of this disease was emphasized. (author)

  5. A case of peeling skin syndrome

    Directory of Open Access Journals (Sweden)

    Anil K Singhal

    2017-01-01

    Full Text Available Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity.

  6. A Case of Peeling Skin Syndrome.

    Science.gov (United States)

    Singhal, Anil K; Yadav, Devendra K; Soni, Bajrang; Arya, Savita

    2017-01-01

    Peeling skin syndrome is a very rare autosomal recessive disease characterized by widespread painless peeling of the skin in superficial sheets. Etiology is still unknown with an autosomal recessive inheritance. Less than 100 cases have been reported in the medical literature. We present a 32-year-old man having asymptomatic peeling of skin since birth. Sheets of skin were peeling from his neck, trunk, and extremities, following friction or rubbing especially if pre-soaked in water but sparing palm and soles. Histologically, there was epidermal separation at the level of stratum corneum, just above the stratum granulosum. This case is being presented due to its rarity.

  7. Management of Hypothenar Hammer Syndrome A Case Report.

    Science.gov (United States)

    Swofford, Brenen P; Swofford, Devon P

    2018-02-09

    BACKGROUND Hypothenar hammer syndrome is a relatively rare disease process caused by repetitive stress or injury to the hypothenar eminence leading to chronic injury to the ulnar artery. This chronic stress (usually as a result of occupational or sport activities) may result in arterial constriction or thickening, which may lead to thrombosis or aneurysm formation. A review of current literature revealed that reports related to management of hypothenar hammer syndrome are limited. CASE REPORT A 33-year-old male without significant past medical history presented with left hand/digit pain, skin discoloration, and coolness of the hand/digits after a mechanical accident experienced 12 hours prior to presentation. Angiography confirmed reduced flow in the ulnar and radial artery with significant spasm of the ulnar artery. Treatment consisted of heparin, nitroglycerin, and papaverine with rapid resolution of symptoms. The patient was discharged on anticoagulation and a calcium channel blocker, with scheduled follow-up. CONCLUSIONS Hypothenar hammer syndrome is a rare disease process which manifests in certain occupations and activities that put undue stress on the hypothenar area. The use of angiography for definitive diagnosis and the use of anticoagulation and calcium channel blockers for treatment should continue to be studied to determine a standard treatment regimen.

  8. Meckel Gruber syndrome, A case report

    Science.gov (United States)

    Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

    2015-01-01

    ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. PMID:26037304

  9. Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation.

    Science.gov (United States)

    Liccardo, Raffaella; De Rosa, Marina; Duraturo, Francesca

    2018-01-01

    Lynch syndrome is an autosomal dominant syndrome that can be subdivided into Lynch syndrome I, or site-specific colonic cancer, and Lynch syndrome II, or extracolonic cancers, particularly carcinomas of the stomach, endometrium, biliary and pancreatic systems, and urinary tract. Lynch syndrome is associated with point mutations and large rearrangements in DNA MisMatch Repair ( MMR ) genes. This syndrome shows a variable phenotypic expression in people who carry pathogenetic mutations. So far, a correlation in genotype-phenotype has not been definitely established. In this study, we describe 2 Lynch syndrome cases presenting with the same genotype but different phenotypes and discuss possible reasons for this.

  10. Kinky hair syndrome - a case report -

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Kim, In One; Chi, Je G.; Moon, Hyung Ro

    1986-01-01

    Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severe neuro degenerative change and infant death. In 1962, Menges and associates described five boys of a related pedigree with severe psychomotor retardation, seizures and widespread cerebral and cerebellar degeneration. In 1969, Weissenberg and associates specified the radiological characterization of the syndrome. Symmetrical metaphyseal spurring and diaphyseal periosteal reaction of the long bones, anterior rib flaring, a malformed cerebral arterial system and subdural effusion. In 1972, Danks and associates found the disease to be associated with a defect of copper metabolism, confirmed by studies with labelled Cu. Authors experienced a case with characteristic clinical picture, and report cerebral and abdominal arteriographic changes and plain radiographic findings with brain CT, DSA and post-mortem angiography.

  11. Posterior reversible encephalopathy syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Kostić Dejan

    2015-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is characterized by the following symptoms: seizures, impaired consciousness and/or vision, vomiting, nausea, and focal neurological signs. Diagnostic imaging includes examination by magnetic resonance (MR and computed tomography (CT, where brain edema is visualized bi-laterally and symmetrically, predominantly posteriorly, parietally, and occipitally. Case report. We presented a 73-year-old patient with the years-long medical history of hipertension and renal insufficiency, who developed PRES with the symptomatology of the rear cranium. CT and MR verified changes in the white matter involving all lobes on both sides of the brain. After a two-week treatment (antihypertensive, hypolipemic and rehydration therapy clinical improvement with no complications occurred, with complete resolution of changes in the white matter observed on CT and MR. Conclusion. PRES is a reversible syndrome in which the symptoms withdraw after several days to several weeks if early diagnosis is made and appropriate treatment started without delay.

  12. WERNER SYNDROME: A NEW CASE REPORT

    Directory of Open Access Journals (Sweden)

    Faida Ajili

    2013-10-01

    Full Text Available “Werner’s syndrome” or premature aging syndrome is a rare autosomal recessive genetic disease. It is responsible of several complications related to age, including atherosclerosis and association with cancer. We report the case of a 36 year-old-patient, admitted to department of Internal Medicine of the military hospital of Tunis for suspicion of systemic sclerosis. The patient had all the major signs of Werner syndrome (bilateral cataract, sclerotic skin, “bird face”, baldness, small size, parental consanguinity and 4 minor signs (type 2 diabetes, hypogonadism, squeaky voice, and flat feet. She has also a brother with the same morphotype died at the age of 32 by a myocardial infarction. The current follow-up time is 9 years..

  13. Prune Belly syndrome: A rare case report.

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  14. Charles Bonnet Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hatice HARMANCI

    2013-09-01

    Full Text Available Charles Bonnet syndrome is a clinical entity in which visual hallucinations are encountered during the prognosis of illnesses presenting with vision loss. The syndrome occurs usually in the elderly and there is generally no history of mental disorder to mention. . Patients and #8217; ability to test the reality is generally conserved and they point out that what they see is not real. Affected people, for fear of being criticized as and #8220;insane and #8221;, do not easily express their experiences but they refer to a psychiatrist because of the increasing fear and anxiety. In this case report, a 73 years old male patient who has lost his vision due to diabetic retinapathy and whose quality of life was affected will be discussed in the acccompaniment of literature data. [J Contemp Med 2013; 3(3.000: 190-192

  15. The Brugada syndrome. Outcome of one case

    Directory of Open Access Journals (Sweden)

    Maia Ivan G.

    2000-01-01

    Full Text Available The Brugada syndrome is a rare condition, and due to its mutating manner of presentation it may be difficult to diagnose. We report one case and discuss the diagnostic aspects and the clinical outcome of one patient with characteristic findings of this syndrome. These findings are especially defined by J-ST elevation in the right leads of serial electrocardiographic records, wide oscillations of J points and ST segments during 24-hour Holter monitoring, and nocturnal sudden death. We stress the importance of the Holter monitor findings for diagnostic complementation. Through this method it is possible to establish a correlation between vigil activities and sleep and the variability of the degree of impairment in ventricular repolarization.

  16. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report.

    Science.gov (United States)

    Goyal, Deepak; Yadav, Dinesh K; Shukla, Umesh; Sethi, Sidharth K

    2010-11-08

    We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  17. Guillain-Barré syndrome and adjuvanted pandemic influenza A (H1N1) 2009 vaccine: multinational case-control study in Europe

    OpenAIRE

    Dieleman, Jeanne; Romio, Silvana; Johansen, Kari; Weibel, Daniel; Bonhoeffer, Jan; Sturkenboom, Miriam

    2011-01-01

    textabstractObjective: To assess the association between pandemic influenza A (H1N1) 2009 vaccine and Guillain-Barré syndrome. Design: Case-control study. Setting: Five European countries. Participants: 104 patients with Guillain-Barré syndrome and its variant Miller-Fisher syndrome matched to one or more controls. Case status was classified according to the Brighton Collaboration definition. Controls were matched to cases on age, sex, index date, and country. Main outcome measures: Relative ...

  18. Sudden acquired retinal degeneration syndrome in western Canada: 93 cases.

    Science.gov (United States)

    Leis, Marina L; Lucyshyn, Danica; Bauer, Bianca S; Grahn, Bruce H; Sandmeyer, Lynne S

    2017-11-01

    This study reviewed clinical data from dogs diagnosed with sudden acquired retinal degeneration syndrome (SARDS) in western Canada. Medical records from the Western College of Veterinary Medicine from 2002 to 2016 showed that 93 cases of SARDS were diagnosed based on presentation for sudden blindness and a bilaterally extinguished electroretinogram. The most common pure breeds were the miniature schnauzer, dachshund, and pug. The mean age at diagnosis was 8.1 years and males and females were equally affected. Most of the dogs were presented with normal non-chromatic, but abnormal chromatic pupillary light reflexes. The incidence of retinal degeneration as detected via ophthalmoscopy increased over time after SARDS diagnosis. Polyuria, polydipsia, polyphagia, weight gain, elevated liver enzyme values, isosthenuria, and proteinuria were common clinical and laboratory findings. Chromatic pupillary light reflex testing may be more valuable than non-chromatic pupillary light testing in detecting pupil response abnormalities in dogs with SARDS, although electroretinography remains the definitive diagnostic test.

  19. Sudden acquired retinal degeneration syndrome in western Canada: 93 cases

    Science.gov (United States)

    Leis, Marina L.; Lucyshyn, Danica; Bauer, Bianca S.; Grahn, Bruce H.; Sandmeyer, Lynne S.

    2017-01-01

    This study reviewed clinical data from dogs diagnosed with sudden acquired retinal degeneration syndrome (SARDS) in western Canada. Medical records from the Western College of Veterinary Medicine from 2002 to 2016 showed that 93 cases of SARDS were diagnosed based on presentation for sudden blindness and a bilaterally extinguished electroretinogram. The most common pure breeds were the miniature schnauzer, dachshund, and pug. The mean age at diagnosis was 8.1 years and males and females were equally affected. Most of the dogs were presented with normal non-chromatic, but abnormal chromatic pupillary light reflexes. The incidence of retinal degeneration as detected via ophthalmoscopy increased over time after SARDS diagnosis. Polyuria, polydipsia, polyphagia, weight gain, elevated liver enzyme values, isosthenuria, and proteinuria were common clinical and laboratory findings. Chromatic pupillary light reflex testing may be more valuable than non-chromatic pupillary light testing in detecting pupil response abnormalities in dogs with SARDS, although electroretinography remains the definitive diagnostic test. PMID:29089658

  20. A case of Churg-Strauss syndrome: tissue diagnosis established by sigmoidoscopic rectal biopsy.

    Science.gov (United States)

    Leen, E J; Rees, P J; Sanderson, J D; Wilkinson, M L; Filipe, M I

    1996-01-01

    A case is presented of Churg-Strauss syndrome in a young man in whom the definitive diagnostic procedure was a full thickness sigmoidoscopic rectal biopsy, with submucosal sampling. Gastrointestinal changes in Churg-Strauss syndrome, a rare systemic illness characterised by asthma, blood and tissue eosinophilia, vasculitis, and granulomatous inflammation are common but poorly reported. The endoscopic and histopathological features of a case are described and emphasise the potential value of a limited sigmoidoscopy in establishing the diagnosis, when lower gastrointestinal symptoms are present. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 PMID:8801216

  1. Case Report: A Rare Case Report of Frontal Lobe Syndrome

    Directory of Open Access Journals (Sweden)

    Morteza Nouri- Khajavi

    2003-04-01

    Full Text Available The frontal lobe syndrome is a permanent personality change disorder with characteristic clinical pictures, which followed by frontal lobes damage. Clinical picture include: Affective instability, recurrent aggressive behavior, impaired social judgment, apathy and undifferentiating or suspiciousness and paranoid ideations. According DSM-IV classification frontal lobe syndrome named personality change due to head trauma on Axis I. Herein we report a case of 46 years-old man, who has developed behavioral disturbances following head trauma, about 10 years ago. Main clinical figures in this case are apathy, avolition and, undifferentiating. Clinical pictures are constant during these 10 years. The diagnostic approach has been based on patient’s problems history which, has taken from his family, mental status examination, Neurological examination, Brain imaging and Neuropsychological assessments which related to frontal lobes function. Because of rarity & neglection due to mysterious function of frontal lobes, and also considering that personality change from previous level is prominent figure of this syndrome and also brain imaging findings, which compatible with clinical findings, with this aim, we have reported this case.

  2. Concurrent Van der Woude syndrome and Turner syndrome: A case report.

    Science.gov (United States)

    Los, Evan; Baines, Hayley; Guttmann-Bauman, Ines

    2017-01-01

    Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

  3. A Case of Prune Belly Syndrome

    Directory of Open Access Journals (Sweden)

    Wei Xu

    2015-06-01

    Full Text Available Prune belly syndrome (PBS is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, “prune-like” abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery–right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection.

  4. A case of prune belly syndrome.

    Science.gov (United States)

    Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

    2015-06-01

    Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. Copyright © 2013. Published by Elsevier B.V.

  5. Unusual Cases of Hypothenar Hammer Syndrome.

    Science.gov (United States)

    Orrapin, Saranat; Arworn, Supapong; Wisetborisut, Anawat

    2015-01-01

    Hypothenar hammer syndrome (HHS) is a rare occupational disease. The risk group of HHS is patient whose dominate hand used as a hammer. Our study report unusually cases in Chiang Mai University Hospital. 19 year-old basketball player had right ulnar artery aneurysm for two months. After operation, his symptom was relieved and returned to play basketball again. 65 year-old housekeeper had non-dominated hand ulnar artery aneurysm for two years. After operation she still had hand claudication due to poor run-off vessel. HHS is previously state in risk group. But from our report there was a risk in different occupation.

  6. Proximal iliotibial band syndrome: case report

    Directory of Open Access Journals (Sweden)

    Guilherme Guadagnini Falotico

    2013-08-01

    Full Text Available OBJECTIVE: The overuse injuries in the hip joint occur commonly in sports practitioners and currently due to technical advances in diagnostic imaging, especially magnetic resonance imaging (MRI, are often misdiagnosed. Recently, a group of people were reported, all female, with pain and swelling in the pelvic region.T2-weighted MRI showed increased signal in the enthesis of the iliotibial band (ITB along the lower border of the iliac tubercle. We report a case of a 34 year old woman, non-professional runner, with pain at the iliac crest with no history of trauma and whose MRI was compatible with the proximal iliotibial band syndrome.

  7. Hunter′s syndrome: A case report

    Directory of Open Access Journals (Sweden)

    N S Savitha

    2015-01-01

    Full Text Available Hunter′s syndrome or mucopolysaccharidosis (MPS type II is an X-linked recessive mucopolysaccharide disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs characterized by involvement of nervous, cardiovascular, respiratory, and mucoskeletal systems along with numerous oral manifestations. This is a case report of a 13-year-old boy referred to the Department of Pediatric Dentistry with a chief complaint of irregularly placed teeth from a general physician. Here we highlight the pivotal role of pediatric dentists in diagnosis and treatment planning for patients diagnosed with such systemic conditions and the provision of advanced dental care in the management of the same.

  8. The metabolic syndrome: validity and utility of clinical definitions for cardiovascular disease and diabetes risk prediction.

    Science.gov (United States)

    Cameron, Adrian

    2010-02-01

    The purpose of clinical definitions of the metabolic syndrome is frequently misunderstood. While the metabolic syndrome as a physiological process describes a clustering of numerous age-related metabolic abnormalities that together increase the risk for cardiovascular disease and type 2 diabetes, clinical definitions include obesity which is thought to be a cause rather than a consequence of metabolic disturbance, and several elements that are routinely measured in clinical practice, including high blood pressure, high blood glucose and dyslipidaemia. Obesity is frequently a central player in the development of the metabolic syndrome and should be considered a key component of clinical definitions. Previous clinical definitions have differed in the priority given to obesity. Perhaps more importantly than its role in a clinical definition, however, is obesity in isolation before the hallmarks of metabolic dysfunction that typify the syndrome have developed. This should be treated seriously as an opportunity to prevent the consequences of the global diabetes epidemic now apparent. Clinical definitions were designed to identify a population at high lifetime CVD and type 2 diabetes risk, but in the absence of several major risk factors for each condition, are not optimal risk prediction devices for either. Despite this, the metabolic syndrome has several properties that make it a useful construct, in conjunction with short-term risk prediction algorithms and sound clinical judgement, for the identification of those at high lifetime risk of CVD and diabetes. A recently published consensus definition provides some much needed clarity about what a clinical definition entails. Even this, however, remains a work in progress until more evidence becomes available, particularly in the area of ethnicity-specific waist cut-points. Copyright 2009 Elsevier Ireland Ltd. All rights reserved.

  9. Cotard's syndrome: analysis of 100 cases.

    Science.gov (United States)

    Berrios, G E; Luque, R

    1995-03-01

    In 1880, Jules Cotard reported a clinical state he believed was a new type of agitated melancholia. A statistical analysis has been carried out of 100 cases of Cotard's syndrome to determine how this clinical concept has fared since its inception. In terms of clinical profile, no difference was found between men and women or between underlying diagnostic categories; age seemed to increase the likelihood of developing délire des négations. Depression was reported in 89% of subjects; the most common nihilistic delusions concerned the body (86%) and existence (69%). Anxiety (65%) and guilt (63%) were also common, followed by hypochondriacal delusions (58%) and delusions of immortality (55). An exploratory factor analysis extracted 3 factors: psychotic depression, Cotard type I and Cotard type II. The psychotic depression factor included patients with melancholia and few nihilistic delusions. Cotard type 1 patients, on the other hand, showed no loadings for depression or other disease and are likely to constitute a pure Cotard syndrome whose nosology may be closer to the delusional than the affective disorders. Type II patients showed anxiety, depression and auditory hallucinations and constitute a mixed group. This new grouping cuts across the more traditional view and may have therapeutic implications. Authors, in general, have considered délire des négations as a syndrome rather than a new disease and do not seem to support the view that the completeness of the syndrome is a function of presence or severity of depression. The view that délire des négations refers only to the delusion of being dead has also carried little favour as its likely to waste information.

  10. Computer-assisted expert case definition in electronic health records.

    Science.gov (United States)

    Walker, Alexander M; Zhou, Xiaofeng; Ananthakrishnan, Ashwin N; Weiss, Lisa S; Shen, Rongjun; Sobel, Rachel E; Bate, Andrew; Reynolds, Robert F

    2016-02-01

    To describe how computer-assisted presentation of case data can lead experts to infer machine-implementable rules for case definition in electronic health records. As an illustration the technique has been applied to obtain a definition of acute liver dysfunction (ALD) in persons with inflammatory bowel disease (IBD). The technique consists of repeatedly sampling new batches of case candidates from an enriched pool of persons meeting presumed minimal inclusion criteria, classifying the candidates by a machine-implementable candidate rule and by a human expert, and then updating the rule so that it captures new distinctions introduced by the expert. Iteration continues until an update results in an acceptably small number of changes to form a final case definition. The technique was applied to structured data and terms derived by natural language processing from text records in 29,336 adults with IBD. Over three rounds the technique led to rules with increasing predictive value, as the experts identified exceptions, and increasing sensitivity, as the experts identified missing inclusion criteria. In the final rule inclusion and exclusion terms were often keyed to an ALD onset date. When compared against clinical review in an independent test round, the derived final case definition had a sensitivity of 92% and a positive predictive value of 79%. An iterative technique of machine-supported expert review can yield a case definition that accommodates available data, incorporates pre-existing medical knowledge, is transparent and is open to continuous improvement. The expert updates to rules may be informative in themselves. In this limited setting, the final case definition for ALD performed better than previous, published attempts using expert definitions. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  11. Tietze's syndrome: case report and literature review | Chuhwak ...

    African Journals Online (AJOL)

    The case report is on Tietze's syndrome – a disorder that is quite rare. Costochondritis has been thought to be synonymous with Tietze's syndrome until recently [2002] when costochondritis was differentiated from Tietze's syndrome. Costochondritis is inflammation of the costochondral joints without swelling. Tietze's ...

  12. Osteomalacia in a Case of Adult-Onset Bartter Syndrome

    Directory of Open Access Journals (Sweden)

    Rashid Naseem Khan

    2018-01-01

    Full Text Available Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia.

  13. Breast Cancer in Cowden Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Jung, Mi Hee

    2009-01-01

    Cowden syndrome is rare condition with characteristic multiple hamartoma and mucocutaneous lesions. It is important for radiologists to be aware of Cowden syndrome because the patients with this disease have an increased risk for the occurrence of breast cancer. We report here on a case of invasive breast cancer in a 36-year-old female patient with Cowden syndrome

  14. The POEMS syndrome: Report of three cases with radiographic abnormalities

    International Nuclear Information System (INIS)

    Tanaka, O.; Ohsawa, T.

    1984-01-01

    Three cases of a unique multisystemic syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (the POEMS syndrome) are presented, along with a review of the literature. Clinical and radiographic features of this syndrome and etiological considerations are discussed. A variety of osteosclerotic lesions, nonspecific pleural effusion and ascites are characteristic radiographic manifestations. (orig.) [de

  15. [Gorlin-Goltz syndrome--a case report].

    Science.gov (United States)

    Debski, Tomasz; Jethon, Józef

    2010-06-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

  16. A computer case definition for sudden cardiac death.

    Science.gov (United States)

    Chung, Cecilia P; Murray, Katherine T; Stein, C Michael; Hall, Kathi; Ray, Wayne A

    2010-06-01

    To facilitate studies of medications and sudden cardiac death, we developed and validated a computer case definition for these deaths. The study of community dwelling Tennessee Medicaid enrollees 30-74 years of age utilized a linked database with Medicaid inpatient/outpatient files, state death certificate files, and a state 'all-payers' hospital discharge file. The computerized case definition was developed from a retrospective cohort study of sudden cardiac deaths occurring between 1990 and 1993. Medical records for 926 potential cases had been adjudicated for this study to determine if they met the clinical definition for sudden cardiac death occurring in the community and were likely to be due to ventricular tachyarrhythmias. The computerized case definition included deaths with (1) no evidence of a terminal hospital admission/nursing home stay in any of the data sources; (2) an underlying cause of death code consistent with sudden cardiac death; and (3) no terminal procedures inconsistent with unresuscitated cardiac arrest. This definition was validated in an independent sample of 174 adjudicated deaths occurring between 1994 and 2005. The positive predictive value of the computer case definition was 86.0% in the development sample and 86.8% in the validation sample. The positive predictive value did not vary materially for deaths coded according to the ICO-9 (1994-1998, positive predictive value = 85.1%) or ICD-10 (1999-2005, 87.4%) systems. A computerized Medicaid database, linked with death certificate files and a state hospital discharge database, can be used for a computer case definition of sudden cardiac death. Copyright (c) 2009 John Wiley & Sons, Ltd.

  17. Accuracy of Zika virus disease case definition during simultaneous Dengue and Chikungunya epidemics.

    Science.gov (United States)

    Braga, José Ueleres; Bressan, Clarisse; Dalvi, Ana Paula Razal; Calvet, Guilherme Amaral; Daumas, Regina Paiva; Rodrigues, Nadia; Wakimoto, Mayumi; Nogueira, Rita Maria Ribeiro; Nielsen-Saines, Karin; Brito, Carlos; Bispo de Filippis, Ana Maria; Brasil, Patrícia

    2017-01-01

    Zika is a new disease in the American continent and its surveillance is of utmost importance, especially because of its ability to cause neurological manifestations as Guillain-Barré syndrome and serious congenital malformations through vertical transmission. The detection of suspected cases by the surveillance system depends on the case definition adopted. As the laboratory diagnosis of Zika infection still relies on the use of expensive and complex molecular techniques with low sensitivity due to a narrow window of detection, most suspected cases are not confirmed by laboratory tests, mainly reserved for pregnant women and newborns. In this context, an accurate definition of a suspected Zika case is crucial in order for the surveillance system to gauge the magnitude of an epidemic. We evaluated the accuracy of various Zika case definitions in a scenario where Dengue and Chikungunya viruses co-circulate. Signs and symptoms that best discriminated PCR confirmed Zika from other laboratory confirmed febrile or exanthematic diseases were identified to propose and test predictive models for Zika infection based on these clinical features. Our derived score prediction model had the best performance because it demonstrated the highest sensitivity and specificity, 86·6% and 78·3%, respectively. This Zika case definition also had the highest values for auROC (0·903) and R2 (0·417), and the lowest Brier score 0·096. In areas where multiple arboviruses circulate, the presence of rash with pruritus or conjunctival hyperemia, without any other general clinical manifestations such as fever, petechia or anorexia is the best Zika case definition.

  18. Evaluation of the WHO clinical case definition of AIDS among children in India.

    Science.gov (United States)

    Gurprit, Grover; Tripti, Pensi; Gadpayle, A K; Tanushree, Banerjee

    2008-03-01

    The need of a clinical case definition (CCD) for Acquired Immunodeficiency Syndrome (AIDS) was felt by public health agencies to monitor diseases resulting from human immunodeficiency virus (HIV) infection. To test the statistical significance of the existing World Health Organization (WHO) CCD for the diagnosis of AIDS in areas where diagnostic resources are limited in India, a prospective study was conducted in the Paediatrics department at Dr. Ram Manohar Lohia Hospital, New Delhi. 360 cases between 18 months-12 years of age satisfying WHO case definitions of AIDS were included in the study group. Informed consent was taken from the parents. The serum of patients was subjected to ELISA to conform the diagnosis of HIV infection. Our study detected 16.66% (60) of HIV prevalence in children visiting paediatrics outpatient clinic. 20% cases manifested 3 major and 2 minor signs. This definition had a sensitivity of 73.33%, specificity of 90.66%, positive predictive value (PPV) of 61.11% and negative predictive value (NPV) of 94.44%. On using stepwise logistic regression analysis weight loss, chronic fever > 1 month and total lymphocyte count of less than 1500 cells/mm3 emerged as important predictors. Cases showing 2 major and 2 minor signs were 86 (23.89%) with a sensitivity and specificity of 86.66% and 88.66% respectively. Based on these findings, we propose a clinical case definition based on 13 clinical signs and symptoms for paediatric AIDS in India with better sensitivity and PPV than the WHO case definition but with almost similar specificity. Thus multicentric studies are further required to modify these criteria in Indian set up.

  19. Accuracy of Zika virus disease case definition during simultaneous Dengue and Chikungunya epidemics.

    Directory of Open Access Journals (Sweden)

    José Ueleres Braga

    Full Text Available Zika is a new disease in the American continent and its surveillance is of utmost importance, especially because of its ability to cause neurological manifestations as Guillain-Barré syndrome and serious congenital malformations through vertical transmission. The detection of suspected cases by the surveillance system depends on the case definition adopted. As the laboratory diagnosis of Zika infection still relies on the use of expensive and complex molecular techniques with low sensitivity due to a narrow window of detection, most suspected cases are not confirmed by laboratory tests, mainly reserved for pregnant women and newborns. In this context, an accurate definition of a suspected Zika case is crucial in order for the surveillance system to gauge the magnitude of an epidemic.We evaluated the accuracy of various Zika case definitions in a scenario where Dengue and Chikungunya viruses co-circulate. Signs and symptoms that best discriminated PCR confirmed Zika from other laboratory confirmed febrile or exanthematic diseases were identified to propose and test predictive models for Zika infection based on these clinical features.Our derived score prediction model had the best performance because it demonstrated the highest sensitivity and specificity, 86·6% and 78·3%, respectively. This Zika case definition also had the highest values for auROC (0·903 and R2 (0·417, and the lowest Brier score 0·096.In areas where multiple arboviruses circulate, the presence of rash with pruritus or conjunctival hyperemia, without any other general clinical manifestations such as fever, petechia or anorexia is the best Zika case definition.

  20. [Mirizzi's syndrome. Evaluation of 3 cases].

    Science.gov (United States)

    Garavello, A; Manfroni, S; Bellanova, G; Antonellis, D

    2004-01-01

    Evaluation of three cases of Mirizzi's syndrome (MS), a rare condition of non neoplastic biliary tree obstruction. We reviewed three cases of MS, operated from July 1998 to December 2000 in our institution. All patients were preoperatively evaluated by clinical examination, Ultrasound (US) and Endoscopic retrograde colangiopancreatography (CPRE) for jaundice. Computed Tomography (TC) was also performed in two. Abdominal pain was the main symptom in two patients, jaundice in one (17 mg/dl); Courvoisier-Terrier sign, suggestive for a biliopancreatic neoplasm, was present in two patients. US was sensitive for gallbladder stones and biliary tree dilatation but not specific for MS; TC only excluded a malignancy in the biliopancreatic area but wasn't useful for diagnosis. CPRE visualized a gallbladder stone obstructing the biliary tree in two cases, but failed to show the fistula between gallbladder and hepatic duct in one. Operations were performed with an "open" approach; in two patients colecystectomy was sufficient to relieve the obstruction, in one patient the biliary fistula was closed with a gallbladder tissue flap over a T tube. Mirizzi's syndrome is a rare condition, but surgeons must be aware of it, particularly in the laparoscopic era were dissection of the Calot triangle may lead to a damage of the hepatic duct. Suspect of MS is mandatory in all cases of jaundice with non neoplastic biliary obstruction. Preoperative diagnosis of MS is not easy; US is sensitive for gallbladder stone and biliary tree dilatation, but not specific for choledochal stone compression and biliobiliary fistula. TC is useful for exclusion of pancreatic or liver neoplasms but is non specific for MS. CPRE represents the "gold" standard for MS, showing the hepatic duct compression caused by the stone impacted in gallbladder neck. CPRE is not only diagnostic but also operative; sphyncterotomy and stones extraction give a temporary relief of hyerbilirubinemia waiting for operation. When

  1. A traumatic case of Weber's syndrome

    International Nuclear Information System (INIS)

    Shirakuni, Takayuki; Tamaki, Norihiko; Matsumoto, Satoshi; Ishida, Kazuhiko; Fujiwara, Masayasu.

    1983-01-01

    The present authors encountered a rare traumatic case of Weber's syndrome in which computerized tomography (CT) revealed a hematoma localized in the tegmentum of the midbrain. This 49-year-old male was admitted because of a disturbed consciousness level caused by a hit on the right frontal area in a traffic accident. A neurological examination on admission disclosed Weber's syndrome: a dilatation of the right pupil, no reaction to direct or indirect light stimuli, ptosis of the right eyelid, lateral deviation of the right eyeball, and left hemiparesis with increased deep tendon reflexes and Babinski's sign. CT revealed a high-density area localized in the tegmentum of the midbrain, but interpeduncular and quadrigeminal cisterns were patent. After admission, his motor function and level of consciousness have showed improvement with medical treatment, but his right oculomotor palsy is unchanged. CT performed 7 days after admission showed a low-density area in place of the absorbed hematoma. In this case, we cannot explain the mechanism of the primary brain-stem injury. However, there are four possible mechanisms: nerve avulsion, neurovascular friction, localized contusion, and shear strain injury. Careful consideration of the anatomical relationship shows that it is likely that the lesion was a contusional hemorrhage caused by impact on the tentorial edge. (author)

  2. Kartagener′s syndrome: A case series

    Directory of Open Access Journals (Sweden)

    Mayank Mishra

    2012-01-01

    Full Text Available Kartagener′s syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility. We hereby report three unusual cases of this rare entity - an infertile male with azoospermia in whom Bochdalek′s diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided.

  3. Temporal evolution of acute respiratory distress syndrome definitions

    Directory of Open Access Journals (Sweden)

    José R. Fioretto

    2013-11-01

    Conclusions: ARDS is a serious disease that remains an ongoing diagnostic and therapeutic challenge. The evolution of definitions used to describe the disease shows that studies are needed to validate the current definition, especially in pediatrics, where the data are very scarce.

  4. Performance of the definitions of the systemic inflammatory response syndrome and sepsis in neonates.

    Science.gov (United States)

    Hofer, Nora; Zacharias, Eva; Müller, Wilhelm; Resch, Bernhard

    2012-09-01

    The aim of this study was to examine the applicability of the definitions of the systemic inflammatory response syndrome (SIRS) and sepsis to neonates during the first 3 days of life. This is a retrospective study of all term neonates hospitalized within the first 24 h of life from 2004 to 2010 at our neonatal intensive care unit. Of 476 neonates, 30 (6 %) had a diagnosis of culture-proven early-onset sepsis (EOS) and 81 (17 %) had culture-negative clinical EOS or suspected EOS. SIRS and sepsis criteria were applied to 116 (24 %) and 61 (13 %) neonates, respectively. Of 30 neonates with culture proven, EOS 14 (53 %) fulfilled SIRS and sepsis criteria. The single diagnostic criterion of SIRS applied to 20 % (hypothermia or fever), 43 % (white blood cell count/immature-to-total neutrophil ratio), 87 % (respiratory symptoms), and 33 % (cardiocirculatory symptoms) of all neonates with culture-proven EOS. The definitions of SIRS and sepsis did not apply to about half of all cases of culture-proven EOS. An evidence-based approach to find the appropriate criteria for defining EOS in the neonate is needed.

  5. Mowat–Wilson syndromecase study

    Directory of Open Access Journals (Sweden)

    Kamil Faltin

    2016-06-01

    Full Text Available Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies, including facial dysmorphia, heart and kidney anomalies, Hirschsprung’s disease, intellectual disability and abnormalities of reproductive organs. In the paper, we present a case of a girl who was admitted to the Department of Paediatrics, Immunology and Nephrology at the age of 3 months, with a suspicion of tubulointerstitial nephritis. The patient had facial dysmorphia, congenital malformations of the nervous system and Hirschsprung’s disease. During hospitalisation, congenital urinary anomalies (bilateral vesicoureteral reflux and heart defects were diagnosed. On the basis of the clinical picture, the diagnostics was expanded to genetic tests for Mowat–Wilson syndrome, which revealed an 857_858delAG pathogenic mutation in one of the ZEB2 gene alleles (exon 7 – one of the rarer causes of Mowat–Wilson syndrome. At present, the girl is 13 months old. Her development is delayed. Currently, the girl is under multidisciplinary care and she is undergoing intensive rehabilitation. The knowledge of the syndrome’s clinical features allows a faster diagnosis to be made and multispecialty care to be provided to the child.

  6. Good’s syndrome. Report of case

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    Diana Andrea Herrera-Sánchez

    2017-06-01

    Full Text Available Background: Good’s syndrome is an association of thymoma and immunodeficiency. The symptoms are recurrent sinopulmonary infections in addition to the compressive side of thymoma. A laboratory finding is notable for the absence or decrease of B lymphocytes, hypogammaglobulinemia, inversion ratio CD4/CD8 and abnormal proliferative response to mitogens. Clinical case: Female, 49-year-old started five months earlier with lower limb edema, postprandial vomiting, dysphagia, chronic diarrhea and weight loss. A second endoscopy ruled gastric neoplasia. Chest radiography with mediastinal widening, Thoraco-abdominal CT with bilateral pleural effusion and a mass in the anterior mediastinum, histopathological report of the tumor: B1 thymoma. Laboratory findings: IgG 349 mg/dL, IgA 70.3 mg/dL, 37.1 IgM mg/dL, Ca125 631 UI/mL, leukocytes 7890 mm3, hemoglobin 13.2 g/dL, lymphocytes 2060 mm3, CD16+CD56+ 122 cells/µL, CD19 77 cells/µL, CD3 2052 cells/µL, CD4 977 cells/µL, CD8 998 cells/µL; ratio CD4/CD8 0.98, hepatitis C, B and HIV negative. They requested valuation to Clinical Immunology and Allergy due to hypogammaglobulinemia, the diagnosis of Good’s syndrome was confirmed and initiated with intravenous gamma globulin replacement to immunomodulatory dose of 1 g/kg, she reached replacement goal in the third dose of immunoglobulin intravenous, with clinical improvement. She died four months later from cardiac complications. Conclusions: Despite the variability of presentation, Good’s syndrome should be suspected as part of the paraneoplastic manifestations of thymoma.

  7. A Case: Eight-and-A-Half Syndrome

    Directory of Open Access Journals (Sweden)

    Cennet Nalan Kuş

    2007-12-01

    Full Text Available Scientific BACKGROUND: The combination of clinical one-and-a-half syndrome together with cranial nerve VII palsy is known to as eight-and-a-half syndrome. It localized the pathology to the pons. OBJECTIVE: To report a case having clinical and radiologic findings typical of eight-and-a-half syndrome. CASE: 65 year old man with hypertension presented with sudden onset of binocular diplopia left facial weakness. Magnetic resonance imaging demostrated a small lesion in the left paramedian pontine tegmentum. CONCLUSION: To our knowledge, this is the first report of a case of eight-and-a-half syndrome in Turkish literature

  8. BRUGADA SYNDROME-A CASE REPORT

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    Kuževska-Maneva Konstandina

    2016-03-01

    Full Text Available Brugada syndrome is a type of arrhythmia disorder, which is characterised by abnormal electrocardiogram (ECG findings and an increased risk of sudden cardiac death. The most frequent sign is a persistent ST elevation in the electrocardiographic leads V1-V3 with a right bundle branch block (RBBB.We present a case of 12 years old healthy child, without any complains until then. He had 2 episodes of collapse/syncope, which lasted long and spontaneously disappeared. The collapses were provoked by physical activity. On ECG we found sinus rhythm 62 bpm, RBBB (right bundle brunch block and Brugada signs in V2 and V3 channel-ST elevation ≥ 2mm. The child was sent in electrophysiological centre abroad where the electrophysiological study was performed. They did not found any accessory pathway. The atrioventricular (AV conduction was normal. Long lasting polymorphic ventricular tachycardia/fibrillation was induced with programed stimulation with 3 extrastimuli in right ventricular outflow tract. Performing one defibrillation the rhythm turned in sinus way. Then they performed ECG with translocation of electrodes V1-3 in 2nd intercostal space and the Brugada I type findings was discovered. After confirming of presence of Brugada type -1 syndrome the implantable cardioverter- defibrillator (ICD was applied on child heart.

  9. A Rare Case: Touraine Solente Gole Syndrome

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    Kamil Şahin

    2017-03-01

    Full Text Available Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease. Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase gene (4q33-q34 demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind.

  10. Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report.

    Science.gov (United States)

    Momen, Ali Akbar; Momen, Mehdi

    2015-01-01

    Objective Approximately 5-10% of preschool age children are considered developmentally disabled. Brain Magnetic Resonance Imaging (MRI) plays a key role in the diagnostic evaluation in these children. Many congenital or acquired brain anomalies are revealed with MRIs. Although the majority of these abnormalities are sporadic but patients with subcortical band heterotopia or double cortex syndrome have sex-linked inheritance. We are going to present the first case in Iran from Ahvaz city, which was presented with status epilepticus associated with developmental delay and finally diagnosed as double cortex syndrome, because band heterotopia cases especially for continuous or generalized form is rare. A 4.5-year-old developmentally delayed girl was admitted for generalized tonic clonic seizure attack of 1 hr, upward gaze, locked mouth, and urinary incontinence (status epilepticus) in the child neurology ward. She had a history of recurrent seizures that started as febrile seizures since she was 12 months of age and had frequent admissions for having recurrent seizure attacks. She was the only child of consanguineous parents with negative family history of any neurologic problems. She was a product of uneventful term pregnancy, vaginal delivery with a low Apgar score at birth who was admitted for six days in the neonatal ward for hypotonia and cyanosis. At 4.5 years of age, she had HC: 45cm (spike-wave discharges. A brain MRI showed corpus callosal dysplasia, generalized band heterotopia, and polymicrogyria. She was discharged home with oral valproate and regular outpatient follow-ups. In the diagnostic evaluation of developmentally delayed and epileptic children, a brain MRI is strongly recommended for accurate diagnosis of anomalies such as neuronal migration disorders (band heterotopia) and others, because appropriate therapeutic management, prognosis, prevention, and genetic counseling for prenatal diagnosis are dependent on definite diagnosis of the proband case.

  11. Two Cases of. Cushing's Syndrome tumour and bilateral hyperplasia

    African Journals Online (AJOL)

    Two patients, one with Cushing's syndrome and one with Cushing's disease, are presented. In the first case the syndrome was caused by a tumour of the right suprarenal gland which was treated by unilateral adrenalectomy, and the second case was diagnosed as hyperplasia of the left suprarenal gland, eventually leading ...

  12. Anophthalmia-Waardenburg syndrome: a report of three cases.

    Science.gov (United States)

    Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

    1996-04-24

    We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

  13. Primary sialoangiectasia - a diagnostic pitfall in Sjogren's syndrome - Case report

    NARCIS (Netherlands)

    Kalk, WWI; Vissink, A; Spijkervet, FKL; Bootsma, H

    A case of primary sialoangiectasia, which in this case was initially misdiagnosed as Sjogren's syndrome, is described. Other diseases, including HIV infection, psoriatic arthritis, and acute parotitis, may cause glandular changes similar to the changes found in the syndrome. Therefore, sialography

  14. Non-Syndromic Oligodontia in permanent dentition: A case report ...

    African Journals Online (AJOL)

    of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

  15. Case Report: Cervical Klippel-Feil syndrome predisposing an ...

    African Journals Online (AJOL)

    Case Report: Cervical Klippel-Feil syndrome predisposing an elderly African man to central cord myelopathy following minor trauma. ... unique presentation of this case of Klippel-Feil syndrome further supports the impression that following fusion (congenital or acquired) of one segment of the spinal column, hypermobility of ...

  16. MELKERSSON-ROSENTHAL SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Adil BAŞMAN

    2017-01-01

    Full Text Available Melkersson-Rosenthal Syndrome (MRS is a rare disorder consisting of a triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue. It is rarely possible to observe all aspects of the classical triad at the same time, since these symptoms may appear in different times of life cycle. The most common symptom is orofacial edema. Although etiology of MRS is unclear, various factors such as infections, genetic predisposition, immune deficiency, food intolerance and stress have been held responsible. MRS is diagnosed based on clinical features. This case report describes a 39 years old male patient with recurrent swelling of the upper lip. Clinical examinations showed classical triad of MRS. The diagnosis and treatment procedures were presented with special emphasis to the clinical features of this rare condition.

  17. Gorlin-Goltz syndrome: case report

    Directory of Open Access Journals (Sweden)

    Maria Carolina Coelho Gozzano

    2018-04-01

    Full Text Available Gorlin-Goltz syndrome (SGG is a rare autosomal dominant disorder. Although it is hereditary, there are cases of spontaneous mutation. It is characterized by carcinogenic predisposition and several clinical manifestations. This article is about a 73-year-old white female patient with scoliosis, hypertelorism and four basal cell carcinomas (BCCs on the back. The diagnosis of SGG was made. SGG is associated with clinical findings classified in larger criteria: minimum two BCCs in more than 20 years, or one in less than 20 years, keratocystic odontogenic tumor, palmoplantar pits, intracranial ectopic calcification, family history of SGG; and minor: craniofacial anomalies, macrocephaly, cleft or palatine lip, frontal bossa, hypertelorism, skeletal anomalies, ovarian fibroma, medulloblastoma. SGG is defined with the presence of two major criteria or one major and two minor. The treatment is multidisciplinary depending on the clinical manifestations of the patient and requires constant vigilance to new clinical findings.

  18. Recurrent Hypothenar Hammer Syndrome: A Case Report.

    Science.gov (United States)

    Adams, Nicholas S; Ford, Ronald D

    2016-10-01

    Hypothenar hammer syndrome (HHS) is a rare cause of digital ischemia and pain caused from repetitive trauma to the palm. Often related to occupational practices, thrombosis and embolization can occur. Treatment is often surgical and involves excision with or without reconstruction. We describe a 55 year-old, male pipe fitter previously diagnosed and treated for HHS with excision and repair using a reversed interpositional vein graft in the mid-1980's. He continued to work in the profession, which he regularly used his palm as a hammer and returned approximately 30 years later with recurrent symptoms of cold intolerance and pain. Angiography confirmed occlusion of the ulnar artery with emboli present distally. The patient was again treated with excision and reconstruction. HHS is an uncommon cause of digital ischemia. Its recurrence is even more rare. To our knowledge, this is the first described case of diagnosed and treated recurrent HHS.

  19. Exploding Head Syndrome:A Case Report

    Directory of Open Access Journals (Sweden)

    Gautam Ganguly

    2013-01-01

    Full Text Available Introduction: Exploding head syndrome (EHS is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. Case Presentation: A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described ‘as if there are explosions in my head’. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. Conclusion: EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

  20. Presentation of a case with Wellens syndrome

    Directory of Open Access Journals (Sweden)

    Luis A. Rodríguez López

    2016-06-01

    Full Text Available This case report is about a 56-year-old male, farm worker with a history of being a smoker and suffering from high blood pressure, who was admitted at the Cardiology Care Department with the diagnosis of coronary artery disease –unstable angina–, because of chest pain related to physical effort and changes in the appearance threshold. Rest-electrocardiogram, painless, shows deep, symmetric negative T waves in anterior wall, without enzyme elevation; but during admission the patient evolves quickly, clinically and electrically, to an extensive anterior wall acute myocardial infarction, without responding to the fibrinolytic reperfusion therapy, and showing a ventricular tachycardia degenerating into ventricular fibrillation. There was no response to the maneuvers of cardiovascular resuscitation, thus, he dies. It is diagnosed postmortem as a Wellens syndrome, because necropsy showed severe atherosclerotic disease of the proximal segment of the left anterior descending coronary artery with extensive anterior transmural infarction.

  1. Pediatric acute respiratory distress syndrome: definition, incidence, and epidemiology: proceedings from the Pediatric Acute Lung Injury Consensus Conference.

    Science.gov (United States)

    Khemani, Robinder G; Smith, Lincoln S; Zimmerman, Jerry J; Erickson, Simon

    2015-06-01

    Although there are similarities in the pathophysiology of acute respiratory distress syndrome in adults and children, pediatric-specific practice patterns, comorbidities, and differences in outcome necessitate a pediatric-specific definition. We sought to create such a definition. A subgroup of pediatric acute respiratory distress syndrome investigators who drafted a pediatric-specific definition of acute respiratory distress syndrome based on consensus opinion and supported by detailed literature review tested elements of the definition with patient data from previously published investigations. International PICUs. Children enrolled in published investigations of pediatric acute respiratory distress syndrome. None. Several aspects of the proposed pediatric acute respiratory distress syndrome definition align with the Berlin Definition of acute respiratory distress syndrome in adults: timing of acute respiratory distress syndrome after a known risk factor, the potential for acute respiratory distress syndrome to coexist with left ventricular dysfunction, and the importance of identifying a group of patients at risk to develop acute respiratory distress syndrome. There are insufficient data to support any specific age for "adult" acute respiratory distress syndrome compared with "pediatric" acute respiratory distress syndrome. However, children with perinatal-related respiratory failure should be excluded from the definition of pediatric acute respiratory distress syndrome. Larger departures from the Berlin Definition surround 1) simplification of chest imaging criteria to eliminate bilateral infiltrates; 2) use of pulse oximetry-based criteria when PaO2 is unavailable; 3) inclusion of oxygenation index and oxygen saturation index instead of PaO2/FIO2 ratio with a minimum positive end-expiratory pressure level for invasively ventilated patients; 4) and specific inclusion of children with preexisting chronic lung disease or cyanotic congenital heart disease. This

  2. [Prune-Belly Syndrome: a case report].

    Science.gov (United States)

    Tattoli, Fabio; De Prisco, Ornella; Gherzi, Maurizio; Falconi, Daniela; Marazzi, Federico; Marengo, Marita; Serra, Ilaria; Tamagnone, Michela; Formica, Marco

    2014-01-01

    Prune-Belly Syndrome (PBS) is a rare congenital syndrome characterized by the absence of abdominal muscles, anomalies in the urinary tract, megaureter, cryptorchidism or testicular agenesis, hypertension and worsening chronic kidney disease (CKD). The incidence is estimated between 1 out of 35,000 and 1 out of 50,000 born alive, and it affects males in prevalence (97%). In the present study we describe the case of a 38 year old male patient (followed since May 2011) affected by PBS, CKD, one functional kidney at the scintigraphy, pediatric testicular implants, bladder surgery and correction of pectus excavatum. At the beginning of the observation, renal function was deteriorated, with a creatinine 3.3 mg/dl, GFR calculated at MDRD 23 ml/min, proteinuria in nephrotic range (4 g/day), high blood pressure, anemia and hyperparathyroidism. In the following examinations renal function framework worsened, despite the adoption of a low-protein diet. Due to the functional trend, the patient was prescribed hemodialysis as substitute treatment. In January 2013 a first attempt of artero-venous fistula (AVF) did not succeed, while a new AVF in March 2013 resulted effective. In July hemodialysis was started. In the future, we expect to insert the patient in the Kidney Transplant List (since surgical feasibility has already been positively evaluated). Our case is quite peculiar due to the late beginning of substitute treatment. Further, SPB represents a challenge that, in the absence of a prompt and effective treatment, inevitably it leads to terminal uremia; nevertheless, given a proper treatment, a transplant with good chances of success can be envisaged.

  3. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hazza Issa

    1999-01-01

    Full Text Available Galloway-Mowat Syndrome (GMS has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

  4. [Enteral distress syndrome in surgery: definition, pathogenesis, diagnosis].

    Science.gov (United States)

    Vlasov, A P; Trofimov, V A; Grigorieva, T I; Shibitov, V A; Vlasov, P A

    2016-01-01

    It was performed a comprehensive experimental and clinical study of functional and metabolic status of the intestine in acute peritonitis, pancreatic necrosis, acute intestinal obstruction. We obtained objective data of impaired barrier function based on levels of toxins in arterial and mesenteric venous blood. Association of organ and organismic homeostatic changes was revealed. It was proved an important role of membrane-destabilizing processes in intestinal epithelium as a cause of enteral insufficiency. Leading trigger mechanisms of lipid metabolic disorders were determined. Enteral distress syndrome was determined as pathological response to acute abdominal surgical diseases. Enteral distress syndrome is a complex of pathological processes due to membrane-destabilizing mechanisms, impaired intestinal barrier function followed by progression of endogenous intoxication. This syndrome significantly aggravates the course of acute surgical abdominal diseases.

  5. Asperger syndrome related suicidal behavior: two case studies

    Directory of Open Access Journals (Sweden)

    Kocourkova J

    2013-11-01

    Full Text Available Jana Kocourkova, Iva Dudova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine, University Hospital Motol, Prague, Czech Republic Abstract: Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome. Keywords: Asperger syndrome, suicidal behavior, adolescence

  6. Prune Belly Syndrome in Adolescence: A Case Report

    Directory of Open Access Journals (Sweden)

    Prasad Mylarappa

    2015-01-01

    Full Text Available The Prune Belly syndrome also known as Eagle Barret syndrome is a rare disorder. We report a rare case of Prune Belly syndrome in 17 year old boy. Patient presented with complains of absence of both testis in scrotum since birth. On examination patient was found to have lax abdominal wall. Patient was further evaluated and found to have shrunken small right kidney and left hydroureteronephrosis and the diagnosis of Prune Belly Syndrome was made. Prune Belly Syndrome represents a wide spectrum of disease. Each patient must be dealt with on an individual basis. A course of watchful waiting with selective surgical intervention has also been successful.

  7. Familial deletion 18p syndrome: case report

    Directory of Open Access Journals (Sweden)

    Lemyre Emmanuelle

    2006-07-01

    Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

  8. Cardiorenal Syndrome Type 1: Definition, Etiopathogenesis, Diagnostics and Treatment

    Directory of Open Access Journals (Sweden)

    Nikolic Tomislav

    2018-03-01

    Full Text Available Cardiorenal Syndrome Type 1 (CRS-1 is defined as an acute worsening of heart function leading to acute kidney injury and/or dysfunction. It is an important cause of hospitalization which affects the diagnosis as well as the prognosis and treatment of patients. The purpose of this paper is to analyze causes that lead to the development of cardiorenal syndrome type 1 and its clinical consequences, as well as to emphasize the clinical importance of its early detection. The clinical studies and professional papers dealing with etiopathogenesis, diagnosis and treatment of cardiorenal syndrome type 1, have been analyzed. The most important role in the occurrence of cardio renal syndrome type 1 is played by hemodynamic mechanisms, activation of neurohumoral systems, inflammation and imbalance between the production of reactive oxygen species (ROS and nitric oxide (NO. Diagnosis of cardiorenal syndrome type 1 involves biomarkers of acute renal injury among which the most important are: neutrophil gelatinaseassociated lipocalin (NGAL, cystatin C, kidney injury molecule 1 (KIM-1, liver-type fatty acid binding protein (L-FABP, IL-18 and the values of nitrogen compounds in serum. In addition to a pharmacological therapy, various modalities of extracorporeal ultrafiltration are applied in treatment of CRS-1, particularly if there is resistance to the use of diuretic therapy. As opposed to the experimental models, in clinical practice acute renal injury is often diagnosed late so that the measures taken do not give the expected results and the protective role shown in experimental conditions do not give the same results. For all these reasons, it is necessary to analyze the pathophysiology of renal impairment in cardiorenal syndrome as well as detect early indicators of kidney injury that could have clinical benefit and positive impact on reducing the cost of treatment.

  9. Olmsted syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    G K Tharini

    2011-01-01

    Full Text Available Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made.

  10. Chronic Fatigue Syndrome – A clinically empirical approach to its definition and study

    Directory of Open Access Journals (Sweden)

    Papanicolaou Dimitris A

    2005-12-01

    Full Text Available Abstract Background The lack of standardized criteria for defining chronic fatigue syndrome (CFS has constrained research. The objective of this study was to apply the 1994 CFS criteria by standardized reproducible criteria. Methods This population-based case control study enrolled 227 adults identified from the population of Wichita with: (1 CFS (n = 58; (2 non-fatigued controls matched to CFS on sex, race, age and body mass index (n = 55; (3 persons with medically unexplained fatigue not CFS, which we term ISF (n = 59; (4 CFS accompanied by melancholic depression (n = 27; and (5 ISF plus melancholic depression (n = 28. Participants were admitted to a hospital for two days and underwent medical history and physical examination, the Diagnostic Interview Schedule, and laboratory testing to identify medical and psychiatric conditions exclusionary for CFS. Illness classification at the time of the clinical study utilized two algorithms: (1 the same criteria as in the surveillance study; (2 a standardized clinically empirical algorithm based on quantitative assessment of the major domains of CFS (impairment, fatigue, and accompanying symptoms. Results One hundred and sixty-four participants had no exclusionary conditions at the time of this study. Clinically empirical classification identified 43 subjects as CFS, 57 as ISF, and 64 as not ill. There was minimal association between the empirical classification and classification by the surveillance criteria. Subjects empirically classified as CFS had significantly worse impairment (evaluated by the SF-36, more severe fatigue (documented by the multidimensional fatigue inventory, more frequent and severe accompanying symptoms than those with ISF, who in turn had significantly worse scores than the not ill; this was not true for classification by the surveillance algorithm. Conclusion The empirical definition includes all aspects of CFS specified in the 1994 case definition and identifies persons with

  11. Osler-Weber-Rendu syndrome complicated with pulmonary arteriovenous malformation: A case report and review of literatures

    Directory of Open Access Journals (Sweden)

    Kuan-Yu Wang

    2015-01-01

    Full Text Available Osler-Weber-Rendu syndrome is a hereditary disease which is diagnosed by criterions of clinical symptoms and examinations. Here, we report a definite case of Osler-Weber-Rendu syndrome who had epistaxis, skin telangiectasia, and pulmonary arteriovenous malformation (PAVM. His initial clinical presentations were growing pulmonary nodule with cough and occasional chest pain. PAVM with rupture of aneurysm was diagnosed histologically after wedge resection of the nodule in his right lower lung.

  12. The prevalence of metabolic syndrome according to various definitions and hypertriglyceridemic-waist in malaysian adults.

    Science.gov (United States)

    Zainuddin, Laila Ruwaida Mohd; Isa, Nurfirdaus; Muda, Wan Manan Wan; Mohamed, Hamid Jan

    2011-10-01

    Metabolic syndrome can be diagnosed according to several different criteria such as the latest International Diabetes Federation (IDF), National Cholesterol Education Program Adult Treatment Program III (NCEP ATPIII), and World Health Organization (WHO). The objectives of this study were to determine the prevalence of metabolic syndrome and the concordance between the above mentioned definition, and hypertriglyceridemic-waist criteria. This cross sectional study was done in Bachok, Malaysia and involved 298 respondents aged between 18 to 70 years. Multistage random sampling method was used to identify study locations while convenient random sampling method was applied to select individuals. Hypertriglyceridemic waist was defined from an internationally acceptable cut-off criterion. Kappa statistic (κ test) was used to determine the concordance between various definitions and hypertriglyceridemic-waist. The prevalence of metabolic syndrome based on different definitions was 32.2% (IDF), 28.5% (NCEP ATP III) and 12.4% (modified WHO). The prevalence of hypertriglyceridemic-waist was 19.7% and based on the IDF criteria a total of 97.5% participants with hypertriglyceridemic-waist had metabolic syndrome. The IDF criteria showed the highest concordance with NCEP ATPIII criteria (κ = 0.63), followed by hypertriglyceridemic-waist criteria (κ = 0.62) and WHO criteria (κ = 0.26). The prevalence of metabolic syndrome was highest using the IDF criteria compared to NCEP ATPIII, modified WHO and hypertriglyceridemic-waist. There was a good concordance of IDF criteria with NCEP ATP III and hypertriglyceridemic-waist criteria.

  13. Kabuki Syndrome: a case report with severe ocular abnormalities

    Directory of Open Access Journals (Sweden)

    Flavio Mac Cord Medina

    2013-10-01

    Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

  14. Spastic pelvic floor syndrome: Definition in double-exposure defaecography

    International Nuclear Information System (INIS)

    Helzel, M.V.

    1989-01-01

    Double-exposure defaecography and the so-called pinching test improve conventional defaecography in the diagnosis of functional rectal outlet disorders. In particular, the pinching test makes quantitative evaluation of the m. puborectalis possible. 'Spastic pelvic floor syndrome' is defined by quantitative parameters in double-exposure defaecography and the pinching test. (orig.) [de

  15. CASE REPORT CASE CASE Conned by Conn's syndrome

    African Journals Online (AJOL)

    2008-01-08

    Jan 8, 2008 ... ing of the aldosterone-producing adenoma (APA) can prove challenging but is nonetheless very important for surgical planning and cure. We present two patients with MRI (magnetic resonance imaging) confirma- tion of APA with negative and equivocal CT (computed tomography) scans. Case 1.

  16. Management of Lowe syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Risky Vitria Prasetyo

    2015-06-01

    Full Text Available Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

  17. OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Raluca Maria MOCANU

    2013-06-01

    Full Text Available Noonan syndrome is an autosomal dominant multisys‐ tem disorder, associated with cardiac anomalies and a dis‐ tinctive facial appearance, characterized by genetic heterogeneity. Noonan syndrome affects both females and males, and has an estimated incidence of 1 per 1,000‐2,500 live births. The present report aims at presenting the cranio‐dento‐facial findings in a case of Noonan syndrome in a 6 year‐old male.

  18. [A case of Isaacs' syndrome associated with dextrocardia].

    Science.gov (United States)

    Torres, L; Cosentino, C; Vélez, M; Anicama, A

    Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. We report the case of a patient with Isaacs syndrome and dextrocardia.

  19. [Asperger syndrome with highly exceptional calendar memory: a case report].

    Science.gov (United States)

    Sevik, Ali Emre; Cengel Kültür, Ebru; Demirel, Hilal; Karlı Oğuz, Kader; Akça, Onur; Lay Ergün, Eser; Demir, Başaran

    2010-01-01

    Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (Psavant syndrome.

  20. Radiologic features of preteus syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ok Hwa [Dept. of Radiology, Haeundae Paik Hospital, Inje University College of Medicine, Busan (Korea, Republic of)

    2014-04-15

    Proteus syndrome is a rare congenital hamartomatous condition that is characterized by a wide range of malformations with overgrowth of various tissues. The author reports the case of a Proteus syndrome in a 14-year-old girl who had the unique features of this syndrome including megaspondylodysplasia with resultant scoliosis, leg discrepancy, macrodactyly, clinodactyly, hyperostosis in external auditory meatus, asymmetric megalencephaly, splenomegaly, cystic lung changes, asymmetric soft tissue fat infiltrations and a long, asymmetric face, with descriptions of the radiological features.

  1. BING-NEEL SYNDROME: ILLUSTRATIVE CASES AND COMPREHENSIVE REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    Marzia Varettoni

    2017-10-01

    Full Text Available The Bing-Neel syndrome is a rare neurological complication of Waldenström’s Macroglobulinemia which results from a direct involvement of central nervous system by malignant lymphoplasmacytic cells. The clinical suspicion of Bing-Neel syndrome may be difficult because neurologic symptoms are heterogeneous, non specific and sometimes underhand. A definitive diagnosis of Bing-Neel syndrome can be confidently made using brain and spinal cord magnetic resonance imaging as well as histopathology and/or cerebrospinal fluid analysis to confirm the neoplastic infiltration of central nervous system. The detection in the cerebrospinal fluid of patients with Bing-Neel syndrome of the MYD88 (L265P somatic mutation, which is highly recurrent in Waldenström’s Macroglobulinemia, revealed useful for the diagnosis and monitoring of central nervous system involvement. Despite recommendations recently published, there is still no clear consensus on treatment of Bing-Neel syndrome, which includes systemic immunochemotherapy, intrathecal chemotherapy and brain irradiation as possible options. Ibrutinib, a Bruton kinase inhibitor highly active in patients with Waldenström’s Macroglobulinemia, has been recently added to the therapeutic armamentarium of Bing-Neel syndrome due to its ability to pass the blood-brain barrier. However, prospective clinical trials are eagerly awaited with the aim to define the optimal treatment strategy.  Here we describe four illustrative cases of Bing-Neel syndrome diagnosed and treated at our Institution and review the literature on this topic.

  2. HIV lipodystrophy case definition using artificial neural network modelling

    DEFF Research Database (Denmark)

    Ioannidis, John P A; Trikalinos, Thomas A; Law, Matthew

    2003-01-01

    OBJECTIVE: A case definition of HIV lipodystrophy has recently been developed from a combination of clinical, metabolic and imaging/body composition variables using logistic regression methods. We aimed to evaluate whether artificial neural networks could improve the diagnostic accuracy. METHODS......: The database of the case-control Lipodystrophy Case Definition Study was split into 504 subjects (265 with and 239 without lipodystrophy) used for training and 284 independent subjects (152 with and 132 without lipodystrophy) used for validation. Back-propagation neural networks with one or two middle layers...... were trained and validated. Results were compared against logistic regression models using the same information. RESULTS: Neural networks using clinical variables only (41 items) achieved consistently superior performance than logistic regression in terms of specificity, overall accuracy and area under...

  3. Working hand syndrome: A new definition of non-classified polyneuropathy condition.

    Science.gov (United States)

    Özdemir, Gökhan

    2017-06-01

    The aim of this paper was to define an unexplained non-classified polyneuropathy condition as a new neurological disease. This new diagnosis of occupation related polyneuropathy has been named as "WORKING HAND SYNDROME (WHS)."This study collected and compared clinic and electrophysiological analyze data from healthy controls, WHS patients, carpal tunnel syndrome (CTS) patients and polyneuropathy patients. The WHS patients presented to the clinic with pain, numbness, tingling, and burning sensations in their hands that increased significantly during rest and nighttime. However, there was no weakness in the muscles, and the deep tendon reflexes were normal in this disease. The patients had all been working in physically demanding jobs requiring the use of their hands/arms for at least 1 year, but no vibrating tools were used by the patients. All of the cases were men. I supposed that overload caused by an action repeated chronically by the hand/arm may impair the sensory nerves in mentioned hand/arm. In patients with these complaints, for a definitive diagnosis, similar diseases must be excluded. Nonetheless, the specific electrophysiological finding that the sural nerves are normal on the lower sides, as well as the occurrence of sensory axonal polyneuropathy in the sensory nerves without a significant effect on velocity and latency in the work-ups of the upper extremity are enough to make a diagnosis.In conclusion, WHS has been defined as a polyneuropathy and occupational disease. Patients with WHS present with pain, numbness, tingling, and burning sensations in their hands that increases significantly during rest and nighttime. They also use their arms/hands for jobs that require heavy labor. The neurological examinations of patients with WHS are normal. Only the sensory nerves in the upper extremities are affected. This article is suggested to serve as a resource for patients, health care professionals, and members of the neurology community at large.

  4. Seckel syndrome: A report of a case

    OpenAIRE

    K Ramalingam; S D Kaliyamurthy; M Govindarajan; S Swathi

    2012-01-01

    Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000), genetically heterogeneous autosomal recessive disorder presenting at birth. This syndrome is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly with a "bird-headed" like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia), and mental retardation. The significance of dental alterations in this syndrome resides in the defect, hypoplastic enamel, being limit...

  5. Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

    Science.gov (United States)

    Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

    2017-09-01

    Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Four therapeutic cases of RS3PE syndrome

    International Nuclear Information System (INIS)

    Nakajima, Naoya; Fukuda, Yukiko; Yang, Kwang-Seok; Aiba, Miyoji; Tsuda, Hiroshi

    2007-01-01

    RS3PE syndrome (Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome) is one of the disorders which present as polyarthritis. It is important to be aware of RS3PE syndrome when encountering elderly patients with polyarthritis who are negative for rheumatoid factor. We report 4 cases of RS3PE syndrome. All cases shared common clinical findings, such as acute onset, symmetrical polyarthritis, pitting edema of the hands and feet, and being negative for rheumatoid factor in serum. Treatment with corticosteroid was very effective in all cases. However, two patients showed a deteriorated clinical condition during the tapering of corticosteroid. Corticosteroid should be tapered off cautiously in patients with RS3PE syndrome. (author)

  7. A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

    Science.gov (United States)

    Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

    2016-05-01

    In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

  8. A case of William's syndrome associated peripheral pulmonary arterial stenosis

    International Nuclear Information System (INIS)

    Jung, Kyung Hwa; Hwang, Mi Soo; Kim, Sun Yong; Chang, Jae Chun; Park, Bok Hwan

    1988-01-01

    William's syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that 'infantile hypercalcemia', 'peculiar facies' and 'supravalvular aortic stenosis.' In has other many vascular anomalies, such as peripheral pulmonary arterial stenosis, coronary arterial stenosis, celiac arterial stenosis, and renal aterial stenosis. Only 32% of the patients have evidence of supravalvular aortic stenosis. And it is very rare disease entity that has been reported rarely in Korea. Recently authors experienced a case that was questioned William's syndrome with peripheral pulmonary arterial stenosis, clinically and preliminary radiologically and this case was confirmed by operation. Here we report a case of William's syndrome with peripheral pulmonary arterial stenosis and reviewed literatures

  9. Superior mesenteric artery compression syndrome - case report

    Directory of Open Access Journals (Sweden)

    Paulo Rocha França Neto

    2011-12-01

    Full Text Available Superior mesenteric artery syndrome is an entity generally caused by the loss of the intervening mesenteric fat pad, resulting in compression of the third portion of the duodenum by the superior mesenteric artery. This article reports the case of a patient with irremovable metastatic adenocarcinoma in the sigmoid colon, that evolved with intense vomiting. Intestinal transit was carried out, which showed important gastric dilation extended until the third portion of the duodenum, compatible with superior mesenteric artery syndrome. Considering the patient's nutritional condition, the medical team opted for the conservative treatment. Four months after the surgery and conservative measures, the patient did not present vomiting after eating, maintaining previous weight. Superior mesenteric artery syndrome is uncommon and can have unspecific symptoms. Thus, high suspicion is required for the appropriate clinical adjustment. A barium examination is required to make the diagnosis. The treatment can initially require gastric decompression and hydration, besides reversal of weight loss through adequate nutrition. Surgery should be adopted only in case of clinical treatment failure.A síndrome da artéria mesentérica superior é uma entidade clínica causada geralmente pela perda do tecido adiposo mesentérico, resultando na compressão da terceira porção do duodeno pela artéria mesentérica superior. Esse artigo relata o caso clínico de uma paciente portadora de adenocarcinoma de cólon sigmoide metastático irressecável, que evoluiu com vômitos incoercíveis. Realizou-se, então, trânsito intestinal que evidenciou dilatação gástrica importante, que se prolongava até a terceira porção duodenal, quadro radiológico compatível com pinçamento da artéria mesentérica superior. Diante da condição nutricional da paciente, foi optado por iniciar medidas conservadoras (porções alimentares pequenas e mais frequentes, além de dec

  10. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Shukla Umesh

    2010-11-01

    Full Text Available Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic features of Coffin-Siris syndrome, with Mayer-Rokitansky-Küster-Hauser syndrome on radiological evaluation. The karyotype of our patient was normal. Conclusion In an unexplained case of mental retardation with facies suggestive of Coffin-Siris syndrome, association with Mayer-Rokitansky-Küster-Hauser syndrome should be considered and the patient should be evaluated for the same. Both of these syndromes may have a common pathogenesis, as yet unknown. This case report has broad implications, as similar cases in future may give insights into the pathogenesis of both these syndromes.

  11. Maffucci's syndrome associated with chondrosarcoma and aneurysm: case report

    International Nuclear Information System (INIS)

    Lim, Hyoung Gun; Yoo, Won Jong; Lim, Yeon Soo; Sung, Mi Sook; Chung Myung Hee; Lee, Hae Giu; Jung, So Lyung; Kim, Jea NA

    2002-01-01

    Maffucci syndrome is a rare congenital non-inherited condition characterized by multiple enchondromas and cutaneous hemangiomas. It is associated with increased risk of malignancy, including chondrosarcomas, and because of generalized mesodermal dysplasia, aneurysms can develop. We present a case of Maffucci syndrome associated with intracranial chondrosarcoma and aneurysm

  12. Maffucci's syndrome associated with chondrosarcoma and aneurysm: case report

    International Nuclear Information System (INIS)

    Lim, Hyoung Gun; Yoo, Won Jong; Lim, Yeon Soo; Sung, Mi Sook; Chung, Myung Hee; Lee, Hae Giu; Jung, So Lyung; Kim, Jae Na

    2002-01-01

    Maffucci syndrome is rare congenital non-inherited condition characterized by multiple enchondromas and cutaneous hemangiomas. It is associated with increased risk of malignancy, including chondrosarcomas, and because of generalized mesodermal dysplasia, aneurysms can develop. We present a case of maffucci syndrome associated with intracranial chondrosarcoma and aneurysm

  13. Fryns anophthalmia-plus syndrome: two rare cases.

    Science.gov (United States)

    Bozkurt, O; Bidev, D; Sari, F N; Dizdar, E A; Ulu, H O; Uras, N; Oguz, S S; Canpolat, F E; Dilmen, U

    2014-01-01

    Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.

  14. Gorlin-Goltz Syndrome: case report and review of literature

    Directory of Open Access Journals (Sweden)

    Adrianne Rahde Bischoff

    2014-10-01

    Full Text Available Description of a case report of Gorlin-Goltz Syndrome diagnosed in a male newborn who presented increased head circumference and bifid ribs. Mother and grandmother presented typical physical findings of the syndrome, including palmar pits, odontogenic cysts, and history of multiple skin cancer resections. The diagnosis was based on clinical findings of three relatives. A literature review is also presented.

  15. The Antley-Bixler syndrome: two new cases.

    Directory of Open Access Journals (Sweden)

    Hosalkar H

    2001-10-01

    Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

  16. Prune Belly Syndrome: A case Report | Ezeaka | Nigerian Quarterly ...

    African Journals Online (AJOL)

    The Prune Belly Syndrome (PBS) is a anomaly. It comprises of a lax abdominal wall musculature, urinary tract anomalies, and cryptorchidism. Our patients had urinary tract infection and renal failure. These are well described consequences of the syndrome and are poor prognostic indices. This case report was undertaken ...

  17. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet [Mersin University Faculty of Medicine, Mersin (Turkmenistan)

    2014-08-15

    Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

  18. Happle-tinschert syndrome: Report of a case with hemimegalencephaly

    International Nuclear Information System (INIS)

    Oezgur, Anil; Cabuk, Gonca; Arpaci, Rabia; Baz, Kiymet; Katar, Demet

    2014-01-01

    Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

  19. Wolfram syndrome: Case report | Atipo-Tsiba | East African Medical ...

    African Journals Online (AJOL)

    The third type or Wolfram-like syndrome is autosomal dominant, differs from the first two by the late onset of optic atrophy and diabetes mellitus type 1 (after adolescence) and hearing impairment is not always present. We report the first documented case of Wolfram syndrome at the University Hospital of Brazzaville in a nine ...

  20. Churg-Strauss syndrome in childhood: a case report.

    Science.gov (United States)

    Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka

    2014-10-01

    Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. © The Author(s) 2013.

  1. Cerebro-costo-mandibular syndrome: Report of two cases.

    Science.gov (United States)

    Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

    2011-01-01

    Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

  2. Klippel-Trenaunay-Weber Syndrome:A case report

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

    1990-10-15

    The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

  3. Usher syndrome associated with Fuchs’ heterochromic uveitis: a case report

    Directory of Open Access Journals (Sweden)

    Turan-Vural E

    2011-04-01

    Full Text Available Ece Turan-Vural, Banu Torun-Acar, Nejla Tükenmez, M Şahin Sevim, Bulent Buttanri, Suphi AcarOphthalmology Clinic, Haydarpasa Numune Education and Research Hospital, Istanbul, TurkeyAbstract: We report a case of Usher syndrome in association with unilateral Fuchs' heterochromic uveitis.Keywords: Fuchs’ heterochromic uveitis, Usher syndrome, deafness, blindness

  4. Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

    Science.gov (United States)

    Rachid, Myriam L; Dreux, Sophie; Czerkiewicz, Isabelle; Deschênes, Georges; Vargas-Poussou, Rosa; Mahieu-Caputo, Dominique; Oury, Jean-François; Muller, Françoise

    2016-09-01

    Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.

  5. Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with prune belly syndrome: a case report.

    Science.gov (United States)

    Akhtar, Tanveer; Alladi, Anand; Siddappa, O S

    2012-01-01

    Megacystis Microcolon Intestinal Hypoperistalsis Syndrome is a quite rare congenital anomaly that presents with a functional obstruction of the gastrointestinal tract which is usually fatal. It is three to four times more prevalent in females. We present a case of a rare association of a male neonate with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome who in addition had the classical triad of Prune Belly Syndrome and thus suggest a possibility of different spectrums with a common pathogenesis.

  6. A Case with Repeated Recurrent Acute Coronary Syndrome due to Pseudoephedrine Use: Kounis Syndrome

    Directory of Open Access Journals (Sweden)

    Metin Çeliker

    2014-01-01

    Full Text Available Allergic reaction-associated acute coronary syndrome picture is defined as Kounis syndrome. Although drug use is the most common cause of allergic reaction, foods and environmental factors may also play a role in the etiology. Herein, a case with acute coronary syndrome that developed two times at 8-month interval due to pseudoephedrine use for upper respiratory tract infection is presented.

  7. [Turner syndrome: Study of 42 cases].

    Science.gov (United States)

    Bahíllo-Curieses, M Pilar; Prieto-Matos, Pablo; Quiroga González, Rocío; Regueras Santos, Laura; Blanco Barrio, Amaya; Rupérez Peña, Sara

    2016-10-21

    Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  8. A Case Report of Ichthyosis Lamellar Syndrome

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    Gh. Eshghi

    2014-04-01

    Full Text Available Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was associated with ectropion and eclabion and hypoplasia of auricular cartilages. She had scarring alopecia because of taut skin (specially at the periphery of scalp. She also had palmoplantar keratoderma and secondary nail dystrophy and thanked nails. Her parents also gave us the history of heat intolerance and it is because of interaepi-dermal constriction of sweat ducts. Our patient had the history of recurrent ear infections and it is because of accumulation of scales in the external ear. Conclusion: Our patient underwent a biopsy and based on our clinical findings her diagnosis was lamellar ichthyosis. (Sci J Hamadan Univ Med Sci 2014; 21 (1:76-79

  9. Churg-Strauss syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Dinić Miroslav Ž.

    2013-01-01

    Full Text Available Introduction. Churg-Strauss syndrome (CSS is an allergic granulomatous angiitis, a rare disease of small and medium arteries and veins, associated with the presence of perinuclear antineutrophil cytoplasmic antibodies (p-ANCA. According to the American College of Rheumatology (ACR, there are four or more criteria out of six for the diagnosis: asthma, eosinophilia (> 10% in peripheral blood, paranasal sinusitis, pulmonary infiltrates, histological evidence of vasculitis with extravascular eosinophils, and mononeuritis multiplex or polyneuropathy. Case report. We reported a female patient, aged 80 years, with asthma for many decades and repeatedly verified eosinophilia in peripheral blood, in which CSS was suspected only after the occurrence of skin changes in the form of vesicles, vesiculopustule, purpuric macula, papule and petechiae. Further tests verified pulmonary infiltrates, paranasal sinusitis, extravascular eosinophils on histopathologic sample of skin tissue, and polyneuropathy. The treatment started with methylprednisolone (60 mg/d, with decreasing doses, and continued with pulse doses of cyclophosphamide (800 mg once monthly, also corticosteroid ointment for skin lesions. Conclusion. Despite long-standing pulmonary symptoms and laboratory findings of eosinophilia, the appearance of skin changes raised suspicion of possible CSS. Skin changes resolved and the patient was reffered to rheumatologist.

  10. Antisynthetase syndrome: Analysis of 11 cases.

    Science.gov (United States)

    Zamarrón-de Lucas, Ester; Gómez Carrera, Luis; Bonilla, Gema; Petit, Dessiree; Mangas, Alberto; Álvarez-Sala, Rodolfo

    2017-02-23

    Antisynthetase syndrome (ASS) is characterised by a series of clinical manifestations such as myositis, fever, mechanic's hands and diffuse interstitial lung disease (ILD), all associated with positivity to antisynthetase antibodies. The presence of ILD will be that, to a great extent it will mark the response to treatment and prognosis. Eleven cases of patients with ASS and pulmonary involvement in monitoring at a Pulmonary monographic consult in a third level hospital consult are described. Nine patients presented positivity to anti-Jo antibody and 2 to anti-PL12. Four patients' HRCT pattern showed NSIP, four UIP, one COP and 2 ground-glass opacity. A percentage of 73 were accompanied by bronchiectasis and bronchiolectasis and 27% honeycombing. Functional exploration was mainly affected by DLCO with up to 45% of the positive walking test. Corticodependence is highlighted, often requiring immunosuppressive treatment both chronically and in exacerbations. All patients maintain good prognosis so far. Patients with interstitial lung disease should have at least a determination of antisynthetase antibodies in order to identify this disease, better prognosis than other interstitial diseases such as idiopathic pulmonary fibrosis. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  11. Prevalence of metabolic syndrome and its components based on a harmonious definition among adults in Morocco

    Directory of Open Access Journals (Sweden)

    El Brini O

    2014-07-01

    Full Text Available Otmane El Brini,1 Omar Akhouayri,1 Allal Gamal,2 Abdelhalem Mesfioui,1 Bouchra Benazzouz1 1Laboratory of Genetic, Neuroendocrinology and Biotechnology, University Ibn Tofail, Faculty of Sciences, Kenitra, Morocco; 2Diagnostic center, Rabat, Morocco Purpose: Metabolic syndrome is a cluster of risk factors for diabetes and cardiovascular diseases that includes central obesity, hypertension, glucose intolerance, high triglyceride, and low high-density lipoprotein cholesterol. Its prevalence is rapidly increasing worldwide. This study aimed to estimate the prevalence of the metabolic syndrome and associated risk factors in a representative sample of Morocco adults using the 2009 joint interim statement definition. Patients and methods: We analyzed data of 820 patients aged 19 years and older. For metabolic syndrome diagnosis, we used the criteria of the recently published joint interim statement (2009. Results: The prevalence of metabolic syndrome is 35.73% among all adults, 18.56% among men, and 40.12% among women. Prevalence increased with age, peaking among those aged 50–59 years. The most common abnormality highlights abdominal obesity (49.15%. Also, half of patients have one or two risk factors for developing this syndrome. Conclusion: The prevalence of metabolic syndrome and associated risk factors is high among adults in Morocco, especially in women. The most prevalent component of metabolic syndrome in our population was abdominal obesity. Keywords: central obesity, hypertension, glucose intolerance, triglyceride, cholesterol

  12. Afferent loop syndrome - a case report

    International Nuclear Information System (INIS)

    Borges, Ana Karina Nascimento; Pinheiro, Marco Antonio Lopes; Galvao, Cristine Norwig

    2000-01-01

    The afferent loop syndrome occurs in patients with previous gastric surgery for tumor, when there is anastomotic edema, use of inappropriate reconstruction technique for gastro jejunostomy or recurrent gastric cancer. Complaints such jaundice, intermittent abdominal distension associated with pain, and vomiting should be investigated in order to rule out this syndrome. (author)

  13. Seckel syndrome: A rare case report

    OpenAIRE

    Rinky Sisodia; Ravi Kadur Sundar Raj; Vipin Goel

    2014-01-01

    Seckel syndrome (SS) is a rare, autosomal recessive syndrome; characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird headed). In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, gastrointestinal, and central nervous systems. Usually such patients have poor ps...

  14. Prader-Willi Syndrome: Two Case Studies.

    Science.gov (United States)

    Bahling, Elizabeth F.

    1979-01-01

    Prader-Willi Syndrome, also called "the eating disease", is a low-incidence handicap which cannot be diagnosed in infancy. Most adults reported in the literature are institutionalized and profoundly retarded. A study of the diagnosis and intervention of two Prader-Willi Syndrome children is presented. (Author/JKS)

  15. Gorlin-Goltz syndrome: A series of three cases.

    Science.gov (United States)

    Patankar, Amod P; Kshirsagar, Rajesh A; Dugal, Arun; Mishra, Akshay; Ram, Hari

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) is also known as nevoid basal cell carcinoma syndrome. It is characterized by multiple keratocystic odontogenic tumors (KCOTs) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. The syndrome may be diagnosed early by a dentist during the routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article reports the series of 3 cases, emphasizing its clinical and radiographic manifestations of GGS.

  16. A Case Report of Gorlin-goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Shima Nafarzadeh

    2016-04-01

    Full Text Available Nevoid basal cell carcinoma syndrome (Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts.

  17. Comparison of the established definition criteria for diagnosing metabolic syndrome between overweight and obese children in Vojvodina

    Directory of Open Access Journals (Sweden)

    Vorgučin Ivana

    2011-01-01

    Full Text Available Background/Aim. Metabolic syndrome is a clinical term which encompasses obesity, insulin resistance, dyslipidemia, hypertension, as well as an increased risk of the development of diabetes mellitus type 2 and cardiovascular disorders in early adulthood. The prevalence of metabolic syndrome is increasing and directly related to the obesity rate among children. The aim of the research was to compare the established definition of the criteria for diagnosing metabolic syndrome in a sample group consisting of overweight and obese children in Vojvodina. Methods. The research was performed as a cross study analysis of 206 examinees. In terms of the sample group (25% children and 75% adolescents, 74% were obese and 26% overweight according to the body mass index (BMI. Two sets of criteria for diagnosing metabolic syndrome were applied in the sample of adolescents: the criteria for adults, specifically adapted for children, and the criteria defined by the International Diabetes Federation (IDF for children and adolescents. The research included the analysis of the following criteria: BMI, waist circumference, blood pressure, triglycerides, HDL cholesterol, glycemia and insulinemia during the oral glucose tolerance test (OGTT. Results. By applying the specific criteria for diagnosing the metabolic syndrome in children and adolescents on the whole sample, it was established that the metabolic syndrome was present in 41% of the examinees, while the application of the criteria defined by the IDF confirmed the diagnosis in 22% of the examinees. An analysis of the metabolic syndrome risk factors established that among the defined specific criteria the most frequent factors present were elevated BMI and the pathological results of the OGTT, while the least frequent was low HDL cholesterol. Among the criteria listed by the IDF, the most frequent metabolic syndrome factors were waist circumference and increased blood pressure, while the least frequent was

  18. Comparisons of metabolic syndrome definitions in four populations of the Asia-Pacific region

    DEFF Research Database (Denmark)

    Lee, C.M.; Huxley, R.R.; Woodward, M.

    2008-01-01

    BACKGROUND: To compare the prevalence of metabolic syndrome (MetS) by four MetS definitions in four Asia-Pacific populations, and to compare the prevalence of individual metabolic components. METHODS: Population-based cross-sectional studies from Australia, Japan, Korea, and Samoa were used...... for EGIR. There were marked differences in the prevalence of MetS between the sexes, with no systematic pattern, and between the prevalences of individual metabolic components. CONCLUSIONS: Differences in the prevalence of MetS and its components, using the various definitions, both within and between...

  19. Cotard’s Syndrome: Two Cases of Self-Starvation

    Directory of Open Access Journals (Sweden)

    Bruno Gonçalves Teixeira

    2015-11-01

    Full Text Available Background: Cotard´s syndrome is a relatively rare condition characterized by various degrees of nihilist delusions, often in the form of self-negation. Aims: To report two cases of Cotard’s syndrome associated with self-starvation and to review the concept and clinical features of the condition. Methods: Two clinical cases of the syndrome were obtained and a literature review of the theme was shortly surveyed. Results and Conclusions: The first case is about a woman who believed that her esophagus and stomach were glued. She was treated with sertraline, mirtazapine and risperidone with good results. The second case describes a man who believed his throat was burnt and he had no internal organs. He was treated with clomipramine and risperidone showing great improvement. This syndrome is a nosological and clinical entity that should not be forgotten. It is essential to provide an urgent and adequate therapeutic approach to these patients.

  20. Progressive Systemic sclerosis, manifested like malabsorption syndrome. Case report

    International Nuclear Information System (INIS)

    Ortiz Piza, Gabriel Jaime; Gonzalez Vasquez, Carlos Mario

    2005-01-01

    We report the case of a 32 year old woman whose first manifestation of systemic sclerosis was malabsorption syndrome. The small bowel series was the clue to the diagnosis, confirmed by laboratory tests and progression of the disease

  1. Sjogren-Larsson syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Uppal Monica

    2004-03-01

    Full Text Available Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal dots.

  2. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

    Directory of Open Access Journals (Sweden)

    Е. А. Roslavtseva

    2015-01-01

    Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

  3. Accuracy of clinical diagnosis versus the World Health Organization case definition in the Amoy Garden SARS cohort.

    Science.gov (United States)

    Wong, W N; Sek, Antonio C H; Lau, Rick F L; Li, K M; Leung, Joe K S; Tse, M L; Ng, Andy H W; Stenstrom, Robert

    2003-11-01

    To compare the diagnostic accuracy of emergency department (ED) physicians with the World Health Organization (WHO) case definition in a large community-based SARS (severe acute respiratory syndrome) cohort. This was a cohort study of all patients from Hong Kong's Amoy Garden complex who presented to an ED SARS screening clinic during a 2-month outbreak. Clinical findings and WHO case definition criteria were recorded, along with ED diagnoses. Final diagnoses were established independently based on relevant diagnostic tests performed after the ED visit. Emergency physician diagnostic accuracy was compared with that of the WHO SARS case definition. Sensitivity, specificity, predictive values and likelihood ratios were calculated using standard formulae. During the study period, 818 patients presented with SARS-like symptoms, including 205 confirmed SARS, 35 undetermined SARS and 578 non-SARS. Sensitivity, specificity and accuracy were 91%, 96% and 94% for ED clinical diagnosis, versus 42%, 86% and 75% for the WHO case definition. Positive likelihood ratios (LR+) were 21.1 for physician judgement and 3.1 for the WHO criteria. Negative likelihood ratios (LR-) were 0.10 for physician judgement and 0.67 for the WHO criteria, indicating that clinician judgement was a much more powerful predictor than the WHO criteria. Physician clinical judgement was more accurate than the WHO case definition. Reliance on the WHO case definition as a SARS screening tool may lead to an unacceptable rate of misdiagnosis. The SARS case definition must be revised if it is to be used as a screening tool in emergency departments and primary care settings.

  4. Goldenhar Syndrome: Review of Literature and A Case Report

    Directory of Open Access Journals (Sweden)

    Anusha Rangare Lakshman

    2017-07-01

    Full Text Available Goldenhar syndrome is a rare congenital anomaly involving the first and second branchial arches. It has been reported with the incidence between 1:3500 and 1:5600, with a male: female ratio of 3:2. The exact etiology is unknown. Most of the cases have been sporadic. This paper presents a rare case of Goldenhar syndrome in a 6 year old boy reported to us for the fabrication of removable ear prosthesis for esthetic purpose.

  5. A Classic Case of Basal Cell Nevus Syndrome

    Directory of Open Access Journals (Sweden)

    Dattaprasad Dadhe

    2015-01-01

    Full Text Available The basal cell nevus syndrome is an autosomal dominant inherited condition characterized mainly by basal cell carcinomas, multiple keratinizing odontogenic tumors, and other systemic anomalies. As these manifestations do not alter the patient′s lifestyle, most of the cases are diagnosed through oral abnormalities. A classic case of basal cell nevus syndrome fulfilling almost all the major and minor criteria has been reported here.

  6. Cornelia de-Lange syndrome - A case report

    Directory of Open Access Journals (Sweden)

    Charvi Chawla

    2018-01-01

    Full Text Available Cornelia de-Lange syndrome (CdLS is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of syndrome so it is important for the clinician to know etiopathological aspects and characteristic features to provide health care and help improve the quality of life of affected individuals.

  7. Nevoid Basal Cell Carcinoma Syndrome : A Case Report

    Directory of Open Access Journals (Sweden)

    K Rajanikanth

    2004-01-01

    Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

  8. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    Science.gov (United States)

    Acharya, Sonu; Panda, Swagatika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-01-01

    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212. PMID:25206225

  9. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  10. A report of a probable case of familial Guillain Barre syndrome

    Directory of Open Access Journals (Sweden)

    Mohammad Barzegar

    2012-01-01

    Full Text Available Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval.

  11. Refeeding syndrome or refeeding hypophosphatemia: a systematic review of cases.

    Science.gov (United States)

    Skipper, Annalynn

    2012-02-01

    Nutrition support clinicians refer to the abnormalities in laboratory data and changes in clinical signs and symptoms that follow refeeding of starved or malnourished patients as refeeding syndrome. Theoretical descriptions of refeeding syndrome include a complex and extensive list of changes, such as hypophosphatemia, hypomagnesemia, hypokalemia, hyponatremia, hypocalcemia, hyperglycemia, and vitamin deficiency--all of which are accompanied by clinical signs and symptoms. In practice, clinicians see asymptomatic refeeding hypophosphatemia more often than a full-blown syndrome with multiple laboratory and clinical abnormalities. Confusion results because there is no widely accepted or uniformly applied set of defining characteristics for diagnosing refeeding syndrome. To gain insight into the clinical characteristics of refeeding syndrome described in the literature, a systematic review of reported cases and case series was conducted. Since 2000, 20 authors described 27 cases that contained sufficient data for review. Hypophosphatemia occurred in 26 patients (96%). While 19 patients (71%) experienced at least 1 other laboratory abnormality, only 14 (51%) exhibited a consistent pattern of abnormally low phosphorus and magnesium levels. Seven patients had hypocalcemia (26%), and hyponatremia was reported in 3 patients (11%). There were no reports of hyperglycemia. Mean data reported in case series containing data from 63 patients showed that hypophosphatemia was a consistent finding but that other abnormalities were not consistently identified. Findings suggest that refeeding hypophosphatemia is not accompanied by a consistent pattern of biochemical or clinical abnormalities among case reports or case series of patients reported to have refeeding syndrome.

  12. Sanjad Sakati Syndrome: Case reports from Egypt

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    Mona Hafez

    2017-03-01

    Conclusion: This diagnosis allowed for proper treatment of the patients, prevented associated co-morbidities, provided a genetic counseling to their families, and enriched the genetic data concerning this syndrome on the Egyptian population being reported for the first time.

  13. Perlman syndrome : Four additional cases and review

    NARCIS (Netherlands)

    Henneveld, HT; van Lingen, RA; Hamel, BCJ; Stolte-Dijkstra, [No Value; van Essen, AJ

    1999-01-01

    Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from

  14. case report: Werner’s Syndrome

    Directory of Open Access Journals (Sweden)

    Faruk Kılınç

    2013-01-01

    Full Text Available Werner’s syndrome (WS is an extremely rare and autosomalrecessive premature aging syndrome characterizedby scleroderma-like skin changes, alopecia, legulcers, short stature, cataract, early atherosclerosis, osteoporosis,hypogonadism and increased susceptibilityto malignancies and diabetes mellitus. It can be typicallyrecognized at the third or fourth decades of life. Patientswith WS usually die at the age of 40-50 years due to malignanttumors or atherosclerotic complications. Therefore,early recognition of WS is of great importance forgenetic counseling and for the identification of malignanttumors, atherosclerosis, diabetes, or osteoporosis at anearly stage, since they are the most important factorscausing morbidity and mortality. In this article, growth retardation,premature aging, early cataract, the findings ofhypergonadotropic hypogonadism syndrome was hospitalizedand diagnosed with wermer 19-year-old male patientis presented.Key words: Werner’s syndrome, premature aging, hypogonadism

  15. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

    OpenAIRE

    Shukla Umesh; Yadav Dinesh K; Goyal Deepak; Sethi Sidharth K

    2010-01-01

    Abstract Introduction We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. Case presentation A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. A thorough medical examination and evaluation revealed she had phenotypic...

  16. Case Of Iatrogenic Cushing's Syndrome By Topical Triamcinolone.

    Science.gov (United States)

    Zil-E-Ali, Ahsan; Janjua, Omer Hanif; Latif, Aiza; Aadil, Muhammad

    2018-01-01

    Cushing's syndrome is a collection of signs and symptoms due to hypercortisolism. Prolong use of topical steroid may cause this syndrome and suppression of hypothalamic and pituitary function, however such events are more common with oral and parenteral route. There are very few cases of Cushing's syndrome with a topical application amongst which triamcinolone is the rarest drug. We report a case of 11-year-old boy is presented who developed Cushing's disease by topical application. The child had body rashes for which the caregiver consulted a local quack, a topical cream of triamcinolone was prescribed. After application for three months, the patient became obese and developed a moon-like face. A thorough biochemical workup and diagnostic test for Cushing's disease was done to confirm. The following case report a dramatic example of development of the syndrome from chronic topical application of the least potent corticosteroid.

  17. Atypical presentation of HELLP syndrome: clinical case report

    Directory of Open Access Journals (Sweden)

    Juan Manuel Tobar Parra

    2017-12-01

    Full Text Available Objective: To describe a case of HELLP syndrome with atypical presentation form. Background: HELLP syndrome is a complication of preeclampsia, characterized by: haemolysis, elevation of liver enzymes and thrombocytopenia; Can present atypical, without hypertension or proteinuria, 10-20% of the cases. Case report: 38 year old female patient, with a pregnancy of 38.5 weeks of gestation, treated at the Hospital Universitario San José de Popayán (Colombia. Atypical HELLP syndrome is diagnosed in a pregnant woman with thrombocytopenia, impaired liver enzymes, but no evidence of proteinuria or hypertension. Gestation is terminated by cesarean section and magnesium sulfate is given for 24 hours, with adequate post-surgical evolution, clinical improvement of the symptomatology presented, normalization of liver enzymes and platelet elevation. Conclusion: Knowledge of this syndrome, although of rare occurrence, allows a fast action, an effective diagnosis and treatment, to avoid morbidity and greater maternal fetal mortality.

  18. Three cases of Wolfram syndrome with different clinical aspects.

    Science.gov (United States)

    Çamtosun, Emine; Şıklar, Zeynep; Kocaay, Pınar; Ceylaner, Serdar; Flanagan, Sarah E; Ellard, Sian; Berberoğlu, Merih

    2015-03-01

    Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. The first case was diagnosed with insulin-dependent diabetes mellitus with positive for pancreatic autoantibodies and had a ketoacidotic attack in the follow-up period. The second case presented initially with optic atrophy and was diagnosed with behavioral and psychiatric problems at an early age. The third case had early onset insulin-dependent diabetes with multiple anomalies and congenital hypothyroidism. Many of these features have not been reported previously in patients with Wolfram syndrome. In all three patients homozygous mutations in WFS1 were identified. Wolfram syndrome is a disease where the characteristic features may present at different times. A diagnosis of Wolfram syndrome should therefore be considered even in the absence of the full spectrum of clinical features.

  19. Post-breast surgery pain syndrome: establishing a consensus for the definition of post-mastectomy pain syndrome to provide a standardized clinical and research approach - a review of the literature and discussion.

    Science.gov (United States)

    Waltho, Daniel; Rockwell, Gloria

    2016-09-01

    Post-mastectomy pain syndrome (PMPS) is a frequent complication of breast surgery. There is currently no standard definition for this chronic pain syndrome. The purpose of this review was to establish a consensus for defining PMPS by identifying the various elements included in the definitions and how they vary across the literature, determining how these definitions affect the methodological components therein, and proposing a definition that appropriately encompasses all of the appropriate elements. We searched PubMed to retrieve all studies and case reports on PMPS, and we analyzed definitions of PMPS, inclusion/exclusion criteria, and methods of measuring PMPS. Twenty-three studies were included in this review. We identified 7 independent domains for defining PMPS: surgical breast procedure, neuropathic nature, pain of at least moderate intensity, protracted duration, frequent symptoms, appropriate location of the symptoms and exacerbation with movement. These domains were used with varying frequency. Inclusion/exclusion criteria and methods for assessing PMPS also varied markedly. To prevent future discrepancies in both the clinical and research settings, we propose a new and complete definition based on the results of our review: PMPS is pain that occurs after any breast surgery; is of at least moderate severity; possesses neuropathic qualities; is located in the ipsilateral breast/chest wall, axilla, and/or arm; lasts at least 6 months; occurs at least 50% of the time; and may be exacerbated by movements of the shoulder girdle.

  20. Cardio-renal syndromes: a systematic approach for consensus definition and classification.

    Science.gov (United States)

    Ronco, Claudio; Ronco, Federico

    2012-03-01

    The "Cardio-Renal Syndrome" (CRS) is a disorder of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The general definition has been expanded to five subtypes reflecting the primacy of organ dysfunction and the time-frame of the syndrome: CRS type I: acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. CRS type II: chronic abnormalities in heart function (CHF-CHD) leading to kidney injury or dysfunction. CRS type III: acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. CRS type IV: chronic kidney disease (CKD) leading to heart injury, disease and/or dysfunction. CRS type V: systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. Different pathophysiological mechanisms are involved in the combined dysfunction of heart and kidney in these five types of the syndrome.

  1. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  2. Carpal Tunnel Syndrome in Aberrant Muscle Syndrome: A Case Report and Review of the Literature.

    Science.gov (United States)

    Steele, Jessica; Coombs, Christopher

    2018-06-01

    Aberrant Muscle Syndrome (AMS) is a rare congenital hand difference that is characterised by unilateral non-progressive muscular hyperplasia. The aetiology of aberrant muscle syndrome is not known, but a recently published case has shown a somatic PIK3CA activating mutation in a patient with AMS. Carpal tunnel syndrome (CTS) in children is rare. The most common causes are the mucopolysaccaridoses but space-occupying lesions have also been reported to cause CTS in children. We report the first case of CTS in a child with AMS successfully treated with open carpal tunnel release and excision of aberrant muscles.

  3. Vestibular dysfunction in Turner syndrome: a case report.

    Science.gov (United States)

    Baxter, Michael; Agrawal, Yuri

    2014-02-01

    Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction. It has never been associated with vestibular dysfunction. We report a case of a patient with Turner syndrome who was found to have bilateral vestibular dysfunction based on video-oculography (VOG) testing. A single patient with a history of Turner syndrome who was found to have significant bilateral vestibular dysfunction. After noticing a deficit in the vestibulo-ocular reflexes on qualitative horizontal head impulse examination, the patient underwent VOG testing. VOG testing quantatively measures angular vestibulo-ocular reflex (AVOR) gain in the horizontal semicircular canal plane. AVOR gain represents the eye movement response to a head movement; in normal individuals the eye movement is fully compensatory and gain values are close to unity. VOG results showed AVOR gains of 0.29 and 0.36 on the right and left sides, respectively. We have presented a case of a woman with Turner syndrome with asymptomatic vestibular dysfunction demonstrated with VOG testing. Although there is a documented relationship between Turner syndrome and sensorineural hearing loss, there are no previous studies or case reports linking Turner syndrome and vestibular dysfunction. Additional research and added vigilance in monitoring Turner syndrome patients may be warranted.

  4. Do we need a new definition of the overactive bladder syndrome? ICI-RS 2013.

    Science.gov (United States)

    Drake, Marcus J

    2014-06-01

    Overactive bladder syndrome (OAB) has a symptom-based definition. Following a presentation of issues, the definition was subjected to expert discussion at the International Consultation on Incontinence Research Society to identify key issues. OAB is a widely used term; it is a pragmatic approach to categorizing a recognized group of patients, and is understood by the patients, however, expert opinion suggested several issues for which additional evidence should be sought. Naming an organ (bladder) in the condition may suggest underlying mechanism, when contributory aspects may lie outside the bladder. No severity thresholds are set, which can cause uncertainty. Urgency is prominent in the definition, but may not be prominent in patients whose adaptive behavior reduces their propensity to urgency. OAB can co-exist with other common conditions, such as benign prostate enlargement (BPE), stress incontinence or nocturnal polyuria. Consensus led by the International Continence Society can be attempted for aspects such as "fear of leakage." To develop a new definition, more substantive evidence is needed for key elements, and until such evidence is available, full redefinition is not appropriate. Thus, the medical profession should accept constructive compromise and work supportively. The ICI-RS proposes that the terminology is slightly rephrased as: "overactive bladder syndrome (OAB) is characterized by urinary urgency, with or without urgency urinary incontinence, usually with increased daytime frequency and nocturia, if there is no proven infection or other obvious pathology." More substantive changes would require additional scientific evidence. Strengths, limitations, and practicalities of the definition of OAB were discussed at the ICIRS meeting 2013. Following a presentation of issues, the definition was subjected to expert discussion. © 2014 Wiley Periodicals, Inc.

  5. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  6. Syndromic odontogenic keratocyst: A case report and review of literature

    Science.gov (United States)

    Arshad, Fazil

    2016-01-01

    Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin–Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin–Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism. Excision was done and microscopic study revealed OKC and the follow-up could not be carried out for the complete management. We also presented a review of its pathogenesis, criterion, and differences between syndromic and nonsyndromic OKCs and suggest to thoroughly examine any patient who presents with multiple OKCs to rule out syndromic variety. PMID:27011939

  7. Nevoid Basal Cell Carcinoma Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Razavi

    2016-09-01

    Full Text Available Nevoid basal cell carcinoma syndrome (BCNS is an autosomal dominant inherited disorder. Multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. In this report, we present a case of Nevoid basal cell carcinoma syndrome in a 26-year-old male patient. The patient had multiple odontogenic keratocyst in the posterior of mandible, syndactyly in both hand and bifid rib. After enucleation and curettage, he was followed for two years. A number of both clinical and radiological criteria are used to diagnose this syndrome. Basal cell carcinoma syndrome is diagnosed with two major criteria or one major and two minor criteria. We must suspect this disorder in young patients with multiple odontogenic keratocyst and dental abnormalities whether related or not with other clinical manifestations or familial history.

  8. A case of piriformis syndrome presenting as radiculopathy

    Directory of Open Access Journals (Sweden)

    Rammurthy Kulkarni

    2015-01-01

    Full Text Available Piriformis syndrome has always remained as a diagnostic dilemma because of its varied presentation. Piriformis syndrome is myofascial dysfunction syndrome which causes pain not only because of trigger points within the muscle but also due to peripheral neuritis of the sciatic nerve. The sciatic neuritis is due to compression of the nerve as it passes through the greater sciatic foramen. The symptoms of sciatic nerve entrapment caused by the piriformis syndrome can be easily mistaken for radiculopathy as the nerve entrapment causes pain which radiates down below the knee and can go up to the foot. Electromyography (EMG and nerve conduction velocity (NCV studies can help differentiating these two conditions and can eliminate the need for the magnetic resonance imaging (MRI. In this paper, we have reported a case of piriformis syndrome which mimicked S 1 radiculopathy, where diagnosis was confirmed by diagnostic piriformis injection.

  9. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  10. Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

    2007-01-15

    Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

  11. Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

    International Nuclear Information System (INIS)

    Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho

    2007-01-01

    Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect

  12. Duodenal Obstruction by a Gallstone (Bouveret's Syndrome Managed by Endoscopic Stone Extraction: A Case Report and Review

    Directory of Open Access Journals (Sweden)

    Franzjosef Schweiger

    1997-01-01

    Full Text Available Gastric outlet obstruction caused by a large gallstone in the duodenum or pylorus (Bouveret's syndrome is a rare complication of gallstone disease. The presenting symptoms are often nonspecific and include nausea, vomiting, epigastric pain and a history of gallbladder disease. Although the diagnosis is established only at surgery in many cases, preoperative recognition by imaging techniques and endoscopy is desirable. Surgical treatment aims at removal of the ectopic gallstone, closure of the fistula and cholecystectomy. A case of Bouveret's syndrome is presented where endoscopic extraction of the duodenal gallstone was accomplished providing definitive treatment for this patient.

  13. A Prenatal Case Report with Patau Syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2008-01-01

    Full Text Available In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies. Trisomy 13, or Patau syndrome, represents the third autosomic trisomy in order of frequency, after trisomy 21 (Down syndrome and trisomy 18 (Edwards syndrome, with a prevalence at birth estimated as between 1:12000 and 1:29000. In this study, we are presenting the results of cytogenetic analysis and clinic assessment in fetus of a woman at 22 weeks gestation, who were referred to our genetic diagnostic laboratory with abnormal triple test result, omphalosel and hydrocephaly. We performed the cordocentesis and pedigree analysis. We found a karyotype (47,XY,+13 in fetus. Because individuals of the family didn’t want, we were not followed the pregnancy prognosis for the mother and the fetus. We were recommending to the prenatal diagnosis for their further pregnancies.

  14. [Report of a case with Joubert syndrome and literature review].

    Science.gov (United States)

    Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

    2011-12-01

    To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

  15. Metabolic syndrome according to different definitions in a rapidly developing country of the African region

    Directory of Open Access Journals (Sweden)

    Paccaud Fred

    2008-09-01

    Full Text Available Abstract Aims We examined, in a country of the African region, i the prevalence of the metabolic syndrome (MetS according to three definitions (ATP, WHO and IDF; ii the distribution of the MetS criteria; iii the level of agreement between these three definitions and iv we also examined these issues upon exclusion of people with diabetes. Methods We conducted an examination survey on a sample representative of the general population aged 25–64 years in the Seychelles (Indian Ocean, African region, attended by 1255 participants (participation rate of 80.3%. Results The prevalence of MetS increased markedly with age. According to the ATP, WHO and IDF definitions, the prevalence of MetS was, respectively, 24.0%, 25.0%, 25.1% in men and 32.2%, 24.6%, 35.4% in women. Approximately 80% of participants with diabetes also had MetS and the prevalence of MetS was approximately 7% lower upon exclusion of diabetic individuals. High blood pressure and adiposity were the criteria found most frequently among MetS holders irrespective of the MetS definitions. Among people with MetS based on any of the three definitions, 78% met both ATP and IDF criteria, 67% both WHO and IDF criteria, 54% both WHO and ATP criteria and only 37% met all three definitions. Conclusion We identified a high prevalence of MetS in this population in epidemiological transition. The prevalence of MetS decreased by approximately 32% upon exclusion of persons with diabetes. Because of limited agreement between the MetS definitions, the fairly similar proportions of MetS based on any of the three MetS definitions classified, to a substantial extent, different subjects as having MetS.

  16. A case of Pseudo-Bartter syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Ik; Choi, Bo Whan; Lee, Yul; Chung, Soo Young [College of Medicine, Hallym University, Seoul (Korea, Republic of)

    1994-10-15

    Pseudo-Bartter Syndrome is a rare medical disease of the kidney characterized by normal blood pressure, hypokalemic metabolic alkalosis, hyperreninemia and hyperaldosteronism with drug history of diuretics. We report US, CT and MRI findings of a patients with clinically proved Pseudo-Bartter syndrome. The patient was a 37 year old woman with a history of long term ingestion of the diuretics(furosemide) for 20 years. Renal US revealed hyperechoic renal medulla at both kidneys. The resistive index(RI), calculated from the duplex doppler waveform is 0.61. Unenhanced CT revealed faint high attenuation along the medulla. T1-weighted MRI revealed indistinct corticomedullary differentiation.

  17. A case of Pseudo-Bartter syndrome

    International Nuclear Information System (INIS)

    Yang, Ik; Choi, Bo Whan; Lee, Yul; Chung, Soo Young

    1994-01-01

    Pseudo-Bartter Syndrome is a rare medical disease of the kidney characterized by normal blood pressure, hypokalemic metabolic alkalosis, hyperreninemia and hyperaldosteronism with drug history of diuretics. We report US, CT and MRI findings of a patients with clinically proved Pseudo-Bartter syndrome. The patient was a 37 year old woman with a history of long term ingestion of the diuretics(furosemide) for 20 years. Renal US revealed hyperechoic renal medulla at both kidneys. The resistive index(RI), calculated from the duplex doppler waveform is 0.61. Unenhanced CT revealed faint high attenuation along the medulla. T1-weighted MRI revealed indistinct corticomedullary differentiation

  18. Adolescent with tourette syndrome and bipolar disorder: a case report.

    Science.gov (United States)

    Shim, Se-Hoon; Kwon, Young-Joon

    2014-12-01

    Tourette syndrome consists of multiple motor tics and one or more vocal tics. Psychopathology occurs in approximately 90% of Tourette syndrome patients, with attention-deficit/hyperactivity, mood, and obsessive-compulsive disorders being common. Additionally, Tourette syndrome and bipolar disorder may be related in some individuals. However, it is unclear why bipolar disorder may be overrepresented in Tourette syndrome patients, and more research is needed. Herein, we report the case of a 15-year-old boy diagnosed with both Tourette syndrome and bipolar disorder, whose symptoms improved with aripiprazole, atomoxetine, and valproate. The patient was diagnosed with Tourette syndrome at 8 years of age when he developed tics and experienced his first depressive episode. The patient had a poor response to a variety of antidepressants and anti-tic medications. A combination of valproate and aripiprazole stabilized both the patient's tics and mood symptoms. It is important to assess individuals with Tourette syndrome for other disorders, including bipolar disorder. The treatment of children and adolescents with both Tourette syndrome and bipolar disorder is an important clinical issue.

  19. Analysis of risk factors for schizophrenia with two different case definitions

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Tidselbak Larsen, Janne; Mors, Ole

    2015-01-01

    Different case definitions of schizophrenia have been used in register based research. However, no previous study has externally validated two different case definitions of schizophrenia against a wide range of risk factors for schizophrenia. We investigated hazard ratios (HRs) for a wide range...... of risk factors for ICD-10 DCR schizophrenia using a nationwide Danish sample of 2,772,144 residents born in 1955-1997. We compared one contact only (OCO) (the case definition of schizophrenia used in Danish register based studies) with two or more contacts (TMC) (a case definition of at least 2 inpatient...... contacts with schizophrenia). During the follow-up, the OCO definition included 15,074 and the TMC 7562 cases; i.e. half as many. The TMC case definition appeared to select for a worse illness course. A wide range of risk factors were uniformly associated with both case definitions and only slightly higher...

  20. Gorlin-Goltz syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Chetan A Pol

    2013-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  1. Axenfeld-Rieger syndrome (ARS): A review and case report.

    LENUS (Irish Health Repository)

    Waldron, Jennie M

    2011-08-29

    Axenfeld-Rieger syndrome (ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. She was also found to have osteopenia. Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed.

  2. A case of refeeding syndrome in a marine recruit.

    Science.gov (United States)

    Bunge, Paul D; Frank, Laura L

    2013-04-01

    Refeeding syndrome is an under-recognized complication of starvation. Presented is a 26-year-old Marine recruit who was found to have hypothermia, mental status changes, and rhabdomyolysis after purposeful weight loss with calorie restriction in conjunction with an arduous exercise program. With rest and food, the patient developed refeeding syndrome, with hypophosphatemia requiring prolonged intravenous replacement. His case is unique in illustrating both malnutrition and refeeding syndrome in someone who appeared to be healthy and was exercising strenuously up to the point of hospital admission. Reprint & Copyright © 2013 Association of Military Surgeons of the U.S.

  3. Gorlin-Goltz syndrome: A rare case report.

    Science.gov (United States)

    Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

    2013-10-01

    Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  4. Eagle′s syndrome: A rare case of young female

    Directory of Open Access Journals (Sweden)

    Mohammad Abdul Baseer

    2013-01-01

    Full Text Available Eagle′s syndrome is a condition that causes pain in the Craniofacial and cervical region of the neck. Symptoms related to the Eagle′s syndrome may be confused with the variety of neuralgias, oral, dental and temporomandibular joint (TMJ conditions. In this paper, a case of the very young female suffering with the difficulty in swallowing and recurrent dull pain in the throat with restriction of the movement of head to the left side was presented. A thorough past medical and dental history, extra oral and intra oral examination coupled with the panoramic radiographic interpretation were used to diagnose Eagle′s syndrome.

  5. Internal mammary artery aneurysm in Marfan syndrome: case report

    Energy Technology Data Exchange (ETDEWEB)

    Common, A A; Pressacco, J; Wilson, J K [Univ. of Toronto, Dept. of Mecial Imaging, Toronto, Ontario (Canada)

    1999-02-01

    Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

  6. Internal mammary artery aneurysm in Marfan syndrome: case report

    International Nuclear Information System (INIS)

    Common, A.A.; Pressacco, J.; Wilson, J.K.

    1999-01-01

    Marfan syndrome has a pleomorphic phenotype. Those affected have abnormalities in the eyes and in the nervous, cardiovascular and musculoskeletal systems. Among these abnormalities are many reported aneurysms, involving the ascending, descending thoracic and abdominal aorta, the sinus of Valsalva, and the internal carotid artery. We report a left internal mammary artery (LIMA) aneurysm in a patient with Marfan syndrome and no other known predisposition to such an aneurysm. No other case of LIMA aneurysm in Marfan syndrome has, to our knowledge, been reported. (author)

  7. A case report of burning mouth syndrome: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Ghassan M Al-Iryani

    2016-01-01

    Full Text Available Oral dysaesthesia syndrome called burning mouth syndrome (BMS causes chronic pain in the orofacial region without presence of any of the detectable organic causes. Common features of BMS are burning sensation in the mouth, xerostomia, dysgeusia, etc. These symptoms ideally show a diurnal pattern, were they are less in the morning and worsen as the day progresses and classically subside at the night time. BMS have multifactorial etiology. This report describes a case of burning mouth syndrome in a 60 year old female patient.

  8. Incomplete McCune-Albright Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nagehan Aslan

    2014-08-01

    Full Text Available Fibrous dysplasia of bone is a genetic, non-inheritable disease that can cause bone pain, bone deformities and fracture. It has a large clinic spectrum from benign monostotic fibrous dysplasia to McCune-Albright syndrome. Rare McCune-Albright syndrome is characterized by precocious puberty, cafe au lait spots and fibrous dysplasia. Herein we presented a case who was preferred to hospital with pathological fractures and diagnosed with Incomplet McCune Albright syndrome because of the lack of endocrine hyperfunction and developed early puberty at clinical course.

  9. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  10. Churg-Strauss syndrome: a case report*

    Science.gov (United States)

    Fernandes, Gabriel Lacerda; Teixeira, Arivaldo Araújo; Antón, Ana Graziela Santana; Reis, Alan Timóteo Rodrigues; de Freitas, Ana Carolina Rezende; Basílio, Dunya Bachour

    2014-01-01

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. PMID:25741095

  11. Churg-Strauss syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Fernandes, Gabriel Lacerda; Reis, Alan Timoteo Rodrigues; Freitas, Ana Carolina Rezende de; Basilio, Dunya Bachour, E-mail: lacerdagabriel@hotmail.com [Hospital de Base do Distrito Federal (HBDF), Brasilia, DF (Brazil); Teixeira, Arivaldo Araujo [Diagnostico das Americas (DASA/Exame-Pasteur), Brasilia, DF (Brazil); Anton, Ana Graziela Santana [Hospital Brasilia, Brasilia, DF (Brazil)

    2014-07-15

    Churg-Strauss syndrome is a rare systemic disease primarily characterized by hypereosinophilia, asthma and vasculitis. The lung is the organ most frequently involved. In the present report, the authors describe a relatively rare finding in this disease - the presence of a pulmonary nodule -, while recalling the main radiological findings and the most relevant differential diagnoses. (author)

  12. A case of splenomegaly in CBL syndrome

    NARCIS (Netherlands)

    Coe, Rachel R.; McKinnon, Margaret L.; Tarailo-Graovac, Maja; Ross, Colin J.; Wasserman, Wyeth W.; Friedman, Jan M.; Rogers, Paul C.; van Karnebeek, Clara D. M.

    2017-01-01

    We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric

  13. Serotonin syndrome associated with sertraline use: case report

    OpenAIRE

    Bárbara Werner Griciunas; Norton Yoshiaki Kitanishi; Renata Carvalho de Souza; Daniel Azevedo Cavalcante; Leonardo Mattiolli Marini

    2017-01-01

    Case report of serotonin syndrome in patient who initiated the use of sertraline at a dose greater than twice the recommended for the treatment of psychotic depression. The patient presented contracture of the limbs, puzzled look, mutism and blood pressure 230x110 mmHg. The syndrome is increasingly common, although it is not well recognized. Many medications can cause it and this possibility should be considered in patients taking serotonergic drugs presenting autonomic or mental disorders an...

  14. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  15. Barr-Shaver-Carr Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Kalantar Hormozi

    2010-04-01

    Full Text Available There are different subtypes of Kline Felter syndrome which 48, XXXY is called Barr-Shaver-Carr syndrome. We present a 17 years old man who referred due to absence of puberty, micro penis decreased Intelligence quotient and also some other sign and symptoms. The presented case stresses performing of kariotype examination (chromosome analysis in the evaluation of patient with such problems.

  16. Meckel-Gruber syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    C Panduranga

    2012-01-01

    Full Text Available Meckel-Gruber syndrome (MKS is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele, hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

  17. Hepatic infarction in HELLP syndrome; a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Mi Jeong; Kim, Hong [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

    2000-11-01

    Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect.

  18. Hepatic infarction in HELLP syndrome; a case report

    International Nuclear Information System (INIS)

    Kim, Mi Jeong; Kim, Hong

    2000-01-01

    Hepatic infarction is a rare but potentially life-threatening complication of pregnancy-associated preeclampsia or HELLP (hemolysis, elevated liver function tests, low platelets) syndrome. We present a case of hepatic infarction subsequent to HELLP syndrome and occurring during the immediate postpartum, and the associated radiologic findings. Sonography revealed poorly defined hypoechoic zones of infarction. Computed tomography(CT) demonstrated the characteristic features of nonenhancing, low attenuation, relatively well-defined, wedge shaped or geographic hepatic lesions, without mass effect

  19. Unusual case of failure to thrive: Type III Bartter syndrome.

    Science.gov (United States)

    Agrawal, S; Subedi, K; Ray, P; Rayamajhi, A

    2016-09-01

    Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive.

  20. Cogan's Syndrome in a Jordanian patient: A case report | Al ...

    African Journals Online (AJOL)

    We reported a Jordanian case of Cogan's Syndrome (CS). A 22-year old male patient presented with interstitial keratitis. The patient was treated successfully with topical steroids but over the following months, he developed vertigo, sensorineural hearing loss (SNHL) and generalized vasculitis. This is the first reported case ...

  1. Gorlin-Goltz Syndrome: Case report and literature review.

    Science.gov (United States)

    Ramesh, Maya; Krishnan, Ramesh; Chalakkal, Paul; Paul, George

    2015-01-01

    Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. This article includes a case report and an extensive review of the GGS with regard to its history, incidence, etiology, features, investigations, diagnostic criteria, keratocystic odontogenic tumor and treatment modalities.

  2. CASE REPORT Thirty years old lady with nephrotic syndrome: a ...

    African Journals Online (AJOL)

    CASE REPORT. Thirty years old lady with nephrotic syndrome: a case of biopsy proven lupus nephritis in Tanzania. FRANCIS FREDRICK1,2*, PASCHAL J. RUGGAJO2,3,GYAVIIRA MAKANGA3, CHARLES K. SHIJA3, MIKAEL. AMDEMARIAM3, BELSON RUGWIZAGONGA4 and JAMES N. KITINYA4. 1Department of ...

  3. Diagnosing acute respiratory distress syndrome in resource limited settings: the Kigali modification of the Berlin definition.

    Science.gov (United States)

    Riviello, Elisabeth D; Buregeya, Egide; Twagirumugabe, Theogene

    2017-02-01

    The acute respiratory distress syndrome (ARDS) was re-defined by a panel of experts in Berlin in 2012. Although the Berlin criteria improved upon the validity and reliability of the definition, it did not make diagnosis of ARDS in resource limited settings possible. Mechanical ventilation, arterial blood gas measurements, and chest radiographs are not feasible in many regions of the world. In 2014, we proposed and applied the Kigali modification of the Berlin definition in a hospital in Rwanda. This review synthesizes literature from the last 18 months relevant to the Kigali modification. In the last 18 months, the need for a universally applicable ARDS definition was reinforced by advances in supportive care that can be implemented in resource poor settings. Research demonstrating the variable impact of positive end expiratory pressure on hypoxemia, the validity of using pulse oximetry rather than arterial blood gas to categorize hypoxemia, and the accuracy of lung ultrasound support the use of the Kigali modification of the Berlin definition. Studies directly comparing the Berlin definition to the Kigali modification are needed. Ongoing clinical research on ARDS needs to include low-income countries.

  4. A case of possible Kounis syndrome as a complication of scombroid syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  5. A Guyon's canal ganglion presenting as occupational overuse syndrome: A case report.

    LENUS (Irish Health Repository)

    Chan, Jeffrey C Y

    2008-01-01

    Occupational overuse syndrome (OOS) can present as Guyon\\'s canal syndrome in computer keyboard users. We report a case of Guyon\\'s canal syndrome caused by a ganglion in a computer user that was misdiagnosed as OOS.

  6. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  7. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-01-01

    Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

  8. Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

    Science.gov (United States)

    Garcia-Moreno, Hector; Fassihi, Hiva; Sarkany, Robert P E; Phukan, Julie; Warner, Thomas; Lehmann, Alan R; Giunti, Paola

    2018-01-01

    Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.

  9. Posterior alien hand syndrome: case report

    International Nuclear Information System (INIS)

    Rohde, S.; Weidauer, S.; Lanfermann, H.; Zanella, F.

    2002-01-01

    The alien hand syndrome (AHS) is involuntary uncontrolled movement of an arm with a sense of estrangement from the limb itself. AHS was initially used to describe interhemispheric disconnection phenomena in patients with lesions in the anterior corpus callosum, but it has been found in patients with posterior cerebral lesions without involvement of the corpus callosum, for example parietal infarcts or corticobasal degeneration. The posterior alien hand syndrome is less frequent and presents with nonpurposive behaviour like lifting the arm or writhing fingers. We report an 80-year-old woman with a posterior AHS of the dominant right hand. MRI showed atrophy of the pre- and postcentral gyri without involvement of the corpus callosum. We discuss the aetiology of the posterior AHS and the differences from the anterior varieties. (orig.)

  10. [Idiopathic rabbit syndrome: a case report].

    Science.gov (United States)

    Miwa, H; Sasaki, Y; Hatori, K; Tanaka, S; Mizuno, Y

    1999-10-01

    We report a patient with idiopathic oromandibular tremor resembling rabbit syndrome. The patient is a 36-year-old Japanese woman without any past and medical histories. On neurological examination, there was no abnormal finding except the oromandibular tremor. The tremor was confined to the jaw and perioral muscles. There was no extremity tremor. Laboratory findings were all normal, as well as her MRI and EEG. Surface EMG studies revealed that regular grouped discharges at a frequency of about 6 Hz appeared in the masseter, the orbicularis oris, and the digastric, and that the alternative contractions were found between the masseter and the digastric. Oral administration of tiapride was effective, but diazepam, trihexyphenydil, levodopa, and a beta-blocker were without effect. Although she had not taken neuroleptics, the appearance of the tremor was identical to the rabbit syndrome. The efficacy of the dopamine blockade may suggest that an abnormal basal ganglia function contributes to the pathophysiologic mechanism underlying this type of tremor.

  11. [Clinical study of 12 cases with obstetric mirror syndrome].

    Science.gov (United States)

    Wu, Lin-lin; Wang, Chen-hong; Li, Zhi-quan

    2012-03-01

    To discuss the clinical features, management, pregnancy outcome and prognosis of obstetric mirror syndrome. The clinical data of 12 cases with obstetric mirror syndrome at Shenzhen Maternity and Child Healthcare Hospital from April 2008 to December 2010 were collected to retrospectively analyze the clinical features, management, pregnancy outcome and prognosis. (1) ETIOLOGY: 12 cases with obstetric mirror syndrome included 9 cases of Bart's hydrops fetalis, 2 cases with fetal complicated congenital cardiac anomalies, and 1 case of unknown etiology. (2) Gestational age at diagnosis and at delivery: gestational age at diagnosis ranged from 28 to 36 weeks [mean (31.5 ± 4.7) weeks], and gestational age at delivery ranged from 28(+3) to 38 weeks [mean (32.9 ± 2.9) weeks]. There were no significant differences between the gestational age at diagnosis and at delivery in consistence with severe preeclampsia group and mild preeclampsia group [(31.8 ± 2.3) weeks vs. (30.9 ± 7.2) weeks, (32.5 ± 2.3) weeks vs. (33.5 ± 3.9) weeks, P > 0.05]. (3) The patients with obstetric mirror syndrome can present a preeclampsia-like syndrome: maternal extremity edema in 12 cases, headache and visual disturbance in 1 case, proteinuria in 11 cases, elevated blood pressure in 5 cases, elevated uric acid in 9 cases, hypoproteinemia in 12 cases, elevated creatinine in 3 case, elevated liver enzyme in 1 case, thrombocytopenia in 2 cases. The major complications included 1 case of HELLP syndrome, acute pulmonary edema, placental abruption, amnionic fluid embolism, DIC respectively, 3 cases of acute kidney failure and 6 cases of postpartum hemorrhage. (4) Sonographic findings: 1) Hydrops fetalis: fetal ultrasound revealed pleural fluid, fetal ascites, skin edema, scalp edema, encephalocolele enlargement, hydropericardium and increased cardio-chest ratio. 2) Placenta megaly: the placental pathological examination revealed edematous and large in 12 cases. Placental thickness was beyond 4 cm in

  12. Congenital pouch colon syndrome: A report of 17 cases

    International Nuclear Information System (INIS)

    Bhat, Nisar Ahmad

    2007-01-01

    Congenital pouch syndrome (CPC) is rare condition seen in an association with anorectal malformation that occurs almost exclusively in northern India. We viewed cases seen in our institution to study aspects of clinical presentation, diagnosis, embryogeneis, and management and raise awareness of this relatively frequent entity. From March 2002 to September 2004, 17 neonates/infants (11 males and 6 females) treated for CPC associated with anorectal malformations included 13 with type IV and 4 with type I CPC. Diagnosis was made by a single large air-fluid level on the infantogram occupying more than 50% of the entire abdominal dimension. In all patients, the pouch had fistulous communication with the genitourinary system, and there were other associated anomalies as well. Of 13 patients with pouch colon type IV, 11 neonates underwent laparotomy, ligation of the fistula, excision of the colonic pouch and end colostomy as a stage I procedure. Subsequently, these patients underwent definitive surgery, i.e. abdominal posterior sagittal anorectoplasty (AP-PSARP), with or without covering colostomy. Two of the 4 patients with type I CPC underwent laparotomy, ligation of the fistula and colorrhaphy as a first-stage operation before AP-PSARP. In our series, 4 patients were diagnosed intraoperatively and were treated in accordance with their operative findings. Post-operatively, there were no major complications except wound infection in some patients. There was one death that was not related to surgery. There are variants of the anomaly, but the possibility of CPC needs to be kept in mind as a possible association with anorectal malformations. (author)

  13. Cantrell Syndrome. Case report of an adult

    Directory of Open Access Journals (Sweden)

    João Luiz Alencar Araripe Falcão

    2000-10-01

    Full Text Available Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

  14. Waardenburg syndrome--a case report.

    Science.gov (United States)

    Bansal, Yuvika; Jain, Parul; Goyal, Gaurav; Singh, Malvika; Mishra, Chittranjan

    2013-02-01

    Waardenburg syndrome is a rare genetic disorder characterized by varying degree of deafness associated with pigmentary anomaly and defects of neural crest cell derived structures. Four subtypes (I-IV) with variable penetrance and gene expression of different clinical features have been described. We report a patient showing constellation of complete heterochromia, dystopia canthorum, white forelock, and synophrys. Other affected family relatives with heterochromia have been depicted in pedigree. Copyright © 2012 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  15. A Case with Wolfram (DIDMOAD Syndrome

    Directory of Open Access Journals (Sweden)

    Bulent Altunoluk

    2012-09-01

    Full Text Available Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade,diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and multiple neurological abnormalities early in the fourth decade.We present a boy 14 years old who had been followed-up with the diagnosis of Wolfram syndrome in this article. He had been followed-up with juvenile-onset diabetes mellitus for 9 years. Physical and laboratory exam revealed neurogenic bladder, deafness and optic defect. We emphasize the importance of family screening regarding the early diagnosis of Wolfram syndrome in the other individuals of the family since the disease shows an autosomal recessive inheritance.

  16. Mirizzi syndrome associated with hepatic artery pseudoaneurysm: a case report

    Directory of Open Access Journals (Sweden)

    Anderson Oliver

    2008-11-01

    Full Text Available Abstract Introduction This is the first case report of Mirizzi syndrome associated with hepatic artery pseudoaneurysm. Case presentation A 54-year-old man presented with painful obstructive jaundice and weight loss. Computed tomography showed a hilar mass in the liver. Following an episode of haemobilia, angiography demonstrated a pseudoaneurysm of a branch of the right hepatic artery that was embolised. At surgery, a gallstone causing Mirizzi type II syndrome was found to be responsible for the biliary obstruction and a necrotic inflammatory mass and haematoma were found to be extending into the liver. The mass was debrided and drained, the obstructing stones removed and the bile duct drained with a t-tube. The patient made a full recovery. Conclusion This case highlights another situation where there may be difficulty in differentiating Mirizzi syndrome from biliary tract cancer.

  17. Alagille syndrome case report: implications for forensic pathology and anthropology.

    Science.gov (United States)

    Petaros, Anja; Miletic, Damir; Stifter, Sanja; Slaus, Mario; Stemberga, Valter

    2015-05-01

    This case report offers a multidisciplinary interpretation of the violent death of a 4-year-old girl suffering from Alagille syndrome who died after a low-height fall that resulted in temporal bone fracture and a large epidural hematoma. The article evidences the macroscopical and microscopical characteristics of the syndrome, focusing especially on the skeletal findings that emerged during autopsy. In the case report, distinction is made between a possible accidental or non-accidental nature of the injuries and the characteristics of the injury have been interpreted in the light of the existing data on Alagille syndrome. In conclusion, the death was documented as accidental since abnormalities in the skeletal system evidenced during autopsy have predisposed the death of the child albeit through a very mild head trauma. The case report evidences the importance of studying features of skull macro- and microstructure in patients with Alagille syndrome, which have been, until now, underreported in literature and which might contribute to fracture vulnerability in these patients. Although rare, Alagille syndrome is a condition that should be known to forensic medicine practitioners and whose features and peculiarities must be taken into consideration in pediatric autopsy and suspected child abuse cases.

  18. Encapsulating peritoneal sclerosis in a peritoneal dialysis patient with prune-belly syndrome: a case report.

    Science.gov (United States)

    Geurts, N; Hubens, G; Wojciechowski, M; Vaneerdeweg, W

    2010-01-01

    This case describes a prune-belly syndrome patient who had a kidney transplantation and was diagnosed with Encapsulating Peritoneal Sclerosis (EPS), a rare but potentially fatal condition, mostly associated with Peritoneal Dialysis (PD). The definition of EPS is based on the clinical findings linked to bowel obstruction and on the demonstration of peritoneal thickening. Surgical treatment is the only established basic treatment for the condition. Prune-belly syndrome is characterized by the triad of deficient abdominal musculature, urinary tract abnormality and cryptorchidism. Because it is often associated with end-stage renal disease, PD is essential in the treatment of patients with prune-belly syndrome. The aetiology of EPS follows a 'two-hit theory': the first 'hit' is peritoneal deterioration, caused by long-time exposure to PD. This causes peritoneal disruption which predisposes the patient to a second hit. In our patient, PD discontinuation and renal transplantation are possible 'second hits' that triggered the development of EPS. This case of prune-belly syndrome has all the necessary elements for the development of EPS, and we felt we should report it as the peroperative diagnosis was unexpected.

  19. Mesothelioma of the testis and nephrotic syndrome: a case report

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    Bacchetta Justine

    2009-06-01

    Full Text Available Abstract Introduction Paraneoplastic glomerulopathies are rare manifestations of neoplastic disease to be distinguished from iatrogenic renal damage. Solid tumors are preferentially associated with membranous nephropathy, whereas Hodgkin's lymphomas are associated with minimal change disease. Case presentation We report a 63-year-old Caucasian male diagnosed with a mesothelioma of the tunica vaginalis testis who, secondary to this, also presented with a nephrotic syndrome due to minimal change disease. In the present case, the paraneoplastic etiology of the nephrotic syndrome can be discussed on four unusual elements: minimal change lesions were found; the glomerulopathy was very sensitive to corticosteroids; the nephrotic syndrome occurred 11 months after the diagnosis of the primary malignancy, but concomitantly with the recurrence; and the nephrotic syndrome did not decrease with tumor control and did not recur when the mesothelioma escaped treatment. No other etiologies could nevertheless explain this phenomenon. Conclusion Paraneoplastic nephrotic syndrome is often associated with membranous nephropathy in patients with solid tumors, especially in patients with lung and gastrointestinal tract neoplasia. The management of these patients is associated with a symptomatic treatment such as sodium and water restriction, diuretics and ACE inhibitors and a prophylaxis of specific complications of nephrotic syndrome including thromboembolism, infections and lipid abnormalities. Treatment of neoplasia must be undertaken rapidly, treatments must be regularly analyzed and drugs binding to albumin may be used with precaution.

  20. Comèl-Netherton syndromecase report

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    Izabela Błażewicz

    2014-11-01

    Full Text Available Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions . Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic problems. In older children, recurrent skin infections and atopic diathesis can cause therapeutic difficulties and require the cooperation of many specialists.

  1. Persistent Mullerian Duct Syndrome: an interesting case report.

    Science.gov (United States)

    Farag, S; Sutton, P; Leow, K S; Kosai, N R; Razman, J; Hanafiah, H; Das, S

    2013-01-01

    Transverse testicular ectopia is an uncommon disorder of testicular ectopia. Nearly thirty percent of the cases is associated with Persistent mullerian duct syndrome which is characterized by karyotypically normal males with retained mullerian derivatives. Understanding the natural process of the condition and the association with malignant potential will allow for a better understanding of the optimal surgical approach. This is a case report of young male presented a left sided inguinal hernia in which the sac contained both testes and uterus. The literature review of the syndrome will be discussed.

  2. A rare case of short stature: Say Meyer syndrome

    OpenAIRE

    Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

    2013-01-01

    Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

  3. Churg-Strauss Syndrome associated with montelukast: Three Case Reports

    Directory of Open Access Journals (Sweden)

    Fatih Yildiz

    2014-04-01

    Full Text Available Churg-Strauss syndrome (new name Eosinophilic granulomatosis and polyangiitis; asthma, fever, peripheral blood eosinophilia, eosinophilic tissue infiltration, small and medium sized arteries characterized by necrotizing granulomatous inflammation is a multisystemic disorder. Classified in ANCA associated vasculitis. The drugs such as leukotriene receptor antagonists (montelukast, zafirlukast, pranlukast, inhaled glucocorticoids, omalizumab, cocaine and clarithromycin is thought to be associated with Churg-Strauss Syndrome cases have been reported. Herein we presented a rare three CSS cases associated with montelukast. [Cukurova Med J 2014; 39(2.000: 347-352

  4. Goldenhar syndrome: Report of two cases with review of literature

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    Ananya Madiyal

    2018-01-01

    Full Text Available Goldenhar syndrome consists of a varied group of malformations that can involve multiple systems of the body. It is believed to be a variant of hemifacial microsomia with ocular and vertebral involvement. Characteristic findings, such as hypoplasia of one half of the face, epibulbar dermoids, ear tags, and spinal cord defects, warrant the name occulo-auriculo-vertebral dysplasia. The syndrome occurs due to imbalance in cells during the blastogenesis period of embryo formation. It is found to involve the derivatives of first and second branchial arches. The condition is apparent at birth, but the phenotype can vary greatly in its severity depending on the activation and expression of the defective gene. Reported here are detailed clinical and radiographic features of two sporadic cases of Goldenhar syndrome in young males. This work mainly highlights the various theories of etiopathogenesis as well as step-wise management protocol for patients diagnosed with the syndrome.

  5. Prune belly syndrome in an adult Nigerian: case report.

    Science.gov (United States)

    Salako, A A; Takure, A O; Olajide, A O; Aarowolo, O A; Egberongbe, A A

    2009-12-01

    Prune Belly Syndrome is a rare congenital anomaly characterized by deficient anterior abdominal wall musculature, bilateral cryptorchidism, bilateral megaureters and often unilateral or bilateral vesico-ureteric junction obstruction. The report of prune belly syndrome in the adult is scanty. We report a case of prune belly syndrome in a 24 year old Nigerian who presented with 3 year history of recurrent right loin pain. Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. A diagnosis of Prune Belly Syndrome was made. The challenges in the diagnosis and management of this rare condition are highlighted in this presentation.

  6. Ischemic Stroke in Williams-Beuren Syndrome: A Case Report

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    Wei-Der Lee

    2009-04-01

    Full Text Available A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressure. Magnetic resonance imaging demonstrated an infarct involving the left internal capsule and putamen. Because of the patient's young age, an extensive stroke survey was performed. Williams-Beuren syndrome was finally confirmed by fluorescent in situ hybridization. Compared with the previously reported cases, no evidence of cerebral arterial stenosis or cardiac abnormalities was found by noninvasive imaging techniques. Because Williams-Beuren syndrome is a complex, multiple congenital anomaly syndrome with prominent cardiovascular features, regular assessment and antihypertensive treatment are necessary to minimize the lifelong cardiovascular risk in patients with this syndrome.

  7. Refeeding syndrome in adults with celiac crisis: a case report.

    Science.gov (United States)

    Hammami, Sonia; Aref, Houda Lazreg; Khalfa, Messouda; Kochtalli, Ines; Hammami, Mohamed

    2018-01-31

    Refeeding syndrome is a rare and life-threatening pathology with polyvisceral manifestations occurring in severely malnourished patients. It is rarely described in adults with celiac disease. We report the case of a 28-year-old Tunisian woman followed up for celiac disease, who did not adhere to the gluten-free diet. She presented to our hospital with celiac crisis manifested by severe diarrhea, and metabolic and electrolyte disturbances. The treatment of electrolyte abnormalities, hydration, and nutritional support was marked by the occurrence on the fifth day of refeeding syndrome with psychomotor agitation followed by respiratory distress and a state of cardiogenic shock. Refeeding syndrome is still under-recognized. It should be systematically prevented for high-risk patients. Nutritional support in patients with celiac crisis should be monitored carefully since the risk of refeeding syndrome is very high with a poor prognosis.

  8. Early diagnosis of Gorlin-Goltz syndrome: case report.

    Science.gov (United States)

    Casaroto, Ana R; Loures, Daniela C N Rocha; Moreschi, Eduardo; Veltrini, Vanessa C; Trento, Cleverson L; Gottardo, Vilmar D; Lara, Vanessa S

    2011-01-25

    The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

  9. Early diagnosis of Gorlin-Goltz syndrome: case report

    Directory of Open Access Journals (Sweden)

    Trento Cleverson L

    2011-01-01

    Full Text Available Abstract The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

  10. Syncope as initial symptom for nephrotic syndrome: a case report

    Science.gov (United States)

    Wu, Xuemei; Wang, Guangliang; Feng, Jiachun

    2015-01-01

    Although syncope and nephrotic syndrome are frequently encountered independently in pediatric practice, syncope as the initial symptom for nephrotic syndrome is rarely observed in the pediatric age group. In this report, we present the case of 3-year-old boy with nephrotic syndrome who presented with a history of three episodes of syncope before admission. The syncope occurred after excessive fluid loss or inadequate intake of fluids and was relieved spontaneously. History taking revealed that the early morning palpebral edema, and laboratory tests showed decreased plasma protein levels and elevated serum lipid levels. Nephrotic syndrome was diagnosed, but could not be confirmed histopathologically because the patient’s parent refused consent for biopsy. The patient was managed with fluid expansion, correction of acidosis, and improvement of microcirculation to prevent recurrence of syncope, and glucocorticoids were administered to prevent disease progression. PMID:26629237

  11. Fahr’s syndrome and idiopathic hypoparathyroidism: A case report

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    Marinković Dejan M.

    2017-01-01

    Full Text Available Introduction. Fahr´s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification. It is associated with neuropsychiatric manifestations and gradually progressive cognitive impairment. Fahr's syndrome is the secondary form of brain calcification that is caused by various metabolic, infectious, or degenerative diseases. Case report. We presented a middle-aged male with Fahr's syndrome due to primary idiopathic hypoparathyroidism. Clinical diagnosis was based on signs and symptoms of hypocalcemia, progressive neuropsychiatric illnesses, laboratory evidence of hypoparathyroidism, and radiological signs of calcifications in the basal ganglia. The patient improved after only a few days of intravenous rehydration and calcium substitution, followed by oral supplemental calcitriol. Conclusion. Timely recognition of idiopathic and iatrogenic hypoparathyroidism allows appropriate treatment that can prevent the development and clinical manifestations of Fahr´s syndrome and potentially slow its progression.

  12. A Case Report of Proteinuria with Sjogren's Syndrome

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    Jong-jin Jeong

    2008-12-01

    Full Text Available Objective : Sjogren's Syndrome is a chronic inflamatory disorder characterized by lymphocytic infiltration of lacrimal and salivary gland. It may be associated with renal disease such as tubulonephritis or glomerulonephritis. Proteinuria is a kidney disorder resulting in an abnormally high amount of protein in the urine. When the glomeruli are damaged, proteins of various sizes pass through them and are excreted in the urine. This report is a case of proteinuria with Sjogren's Syndrome. Methods : The patient was diagnosed as kidney yang deficiency syndrome and treated with Woogyu-eum, Sa-am acupuncture therapy and bee venom acupuncture therapy. Visual Analog Scale was used to estimate the clinical symptoms. Results : Clinical symptoms and proteinuria were improved without steroid therapy. Conclusion Therefore, we concluded that oriental medical therapy may be useful to treat proteinuria with Sjogren's Syndrome.

  13. Wolf–Hirschhorn syndrome – a case report

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    Halyna Bulak

    2017-06-01

    Full Text Available Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p. Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.

  14. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  15. Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome.

    Science.gov (United States)

    Landau, Daniel; Hirsch, Harry J; Gross-Tsur, Varda

    2016-02-18

    Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.

  16. Epidemiology and outcomes of acute respiratory distress syndrome in children according to the Berlin definition: a multicenter prospective study.

    Science.gov (United States)

    Barreira, Eliane R; Munoz, Gabriela O C; Cavalheiro, Priscilla O; Suzuki, Adriana S; Degaspare, Natalia V; Shieh, Huei H; Martines, João A D S; Ferreira, Juliana C; Lane, Christianne; Carvalho, Werther B; Gilio, Alfredo E; Precioso, Alexander R

    2015-05-01

    In 2012, a new acute respiratory distress syndrome definition was proposed for adult patients. It was later validated for infants and toddlers. Our objective was to evaluate the prevalence, outcomes, and risk factors associated with acute respiratory distress syndrome in children up to 15 years according to the Berlin definition. A prospective, multicenter observational study from March to September 2013. Seventy-seven PICU beds in eight centers: two private hospitals and six public academic hospitals in Brazil. All children aged 1 month to 15 years admitted to the participating PICUs in the study period. None. All children admitted to the PICUs were daily evaluated for the presence of acute respiratory distress syndrome according to the American-European Consensus Conference and Berlin definitions. Of the 562 patients included, acute respiratory distress syndrome developed in 57 patients (10%) and 58 patients (10.3%) according to the Berlin definition and the American-European Consensus Conference definition, respectively. Among patients with acute respiratory distress syndrome according to the Berlin definition, nine patients (16%) were mild, 21 (37%) were moderate, and 27 (47%) were severe. Compared with patients without acute respiratory distress syndrome, patients with acute respiratory distress syndrome had significantly higher severity scores, longer PICU and hospital length of stay, longer duration of mechanical ventilation, and higher mortality (p < 0.001). The presence of two or more comorbidities and admission for medical reasons were associated with development of acute respiratory distress syndrome. Comparisons across the three the Berlin categories showed significant differences in the number of ventilator-free days (21, 20, and 5 d, p = 0.001) and mortality for severe acute respiratory distress syndrome (41%) in comparison with mild (0) and moderate (15%) acute respiratory distress syndrome(p = 0.02). No differences in PICU or hospital stay were

  17. Guillain-Barre syndrome associated with hemorrhagic fever with renal syndrome in China: a case report.

    Science.gov (United States)

    Jiao, Jie; Wu, Lei; Yin, Jianyuan; Quan, Xiaojiao; Chen, Wei; Hu, Jie

    2018-03-27

    We describe a case of Guillain-Barre syndrome (GBS) associated with hemorrhagic fever with renal syndrome. To our knowledge, only five cases of GBS associated with Hantavirus infection have been reported so far. A 62-year-old man presented intermittent fever, chill and oliguria. According to remarkable leukocytosis, atypical lymphocytes, thrombocytopenia and former dwelling in hemorrhagic fever-endemic area, he was suspected as hemorrhagic fever with renal syndromeand certified with positive Hantavirus IgG. Later, the patient had symmetrical flaccid paralysis of all extremities. Electromyography showed peripheral nerve injury (mainly in axon). The patient was diagnosed as having acute motor sensory axonal neuropathy (AMSAN). After immunoglobulin infusion, patient showed progressive recovery and was transferred 3 weeks after his first admission to a rehabilitation center. Our case was the 6th reported case of GBS associated with hemorrhagic fever with renal syndrome. Moreover, we for the first time classified the subtype of GBS (AMSAN) based on the electrophysiology characteristics. GBS should be suspected in patients who are already diagnosed as hemorrhagic fever with renal syndrome when delayed symmetrical limb paralysis occurs. Until recent now, GBS was only reported in hemorrhagic fever patients in Europe and Asia, which termed as hemorrhagic fever with renal syndrome.

  18. Identifying the metabolic syndrome in obese children and adolescents: do age and definition matter?

    Science.gov (United States)

    van Vliet, Mariska; von Rosenstiel, Inès A; Schindhelm, Roger K; Brandjes, Dees P M; Beijnen, Jos H; Diamant, Michaela

    2009-09-01

    To assess the prevalence of the metabolic syndrome (MetS) in overweight/obese children and adolescents of an out-patient clinic, and to compare two definitions of MetS in adolescents. In total, 528 overweight / obese children (3-16 years), of multi-ethnic origin, underwent an oral glucose tolerance test, blood collections and anthropometric measurements. In children definitions was moderate (kappa =0.51), with the agreement for the MetS-criteria for abnormal lipid levels being substantial to very good (kappa =0.71 to 0.80). MetS-child was highly prevalent in overweight/obese children and adolescents. A higher prevalence of MetS according to adolescent- as compared to child-specific criteria was found.

  19. Yellow Nail Syndrome - a Case Report

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    Paravina Mirjana

    2015-06-01

    Full Text Available Yellow nail syndrome is a rare disease of unknown etiology. It is clinically characterized by a triad of yellow nails, lymphedema at one or more sites, and chronic respiratory disease (bronchitis, bronchiectasis and rhinosinusitis. All nails may be affected, but some may be spared. The nail plates are yellowish green, thickened, occasionally with transverse ridging and onycholysis, with increased longitudinal and transversal over-curvature, with partial or complete separation of the nail plate from the nail bed, without lunula and cuticle and slow nail growth rate. The lymphedema is usually peripheral, affecting the lower limbs, or in the form of pleural effusion.

  20. Diabetes mellitus with Laron syndrome: case report.

    Science.gov (United States)

    Agladıoglu, Sebahat Yılmaz; Cetınkaya, Semra; Savas Erdeve, Senay; Onder, Asan; Kendırcı, Havva Nur Peltek; Bas, Veysel Nijat; Aycan, Zehra

    2013-01-01

    There are different opinions concerning changes in glucose metabolism in patients with Laron syndrome. In this paper we discuss the treatment results of our patient with Laron syndrome who developed diabetes during late adolescence. A 19-year-old boy with Laron syndrome was referred to our clinic for follow-up. He had been diagnosed with Laron syndrome (LS) at 4 years old and rIGF-1 therapy was initiated. After 4 months the treatment was discontinued. At the age of 17, rIGF-1 therapy was restarted. A height gain of 8.8 cm. was observed during the 2-year treatment period. He was admitted to our hospital at the age of 19 years following discontinuation of the therapy. At that time, his height was 142 cm, and weight for height was 136%. His blood glucose was 85 mg/dL (4.72 mmol/L), insulin was 26.39 pmol/L, and HbA1c was 5.4%. At the age of 20, when he has not been receiving IGF-1 therapy for 1 year, his weight for height was 143 cm. Laboratory evaluation revealed that fasting blood glucose was 176 mg/dL (9.77 mmol/L), fasting insulin was 29.86 pmol/L, and HbA1c was 7.5%. Primary insulin therapy was then initiated. His parents both had a diagnosis of type 2 diabetes. Insulin therapy was switched to oral antidiabetic (OAD) therapy at the end of the second year because of a normal C-peptide level of 0.8 nmol/L under insulin therapy. After 6 months of OAD, HbA1c was 5.7%. The treatment was then switched to IGF-1 therapy, but his blood glucose profile was impaired and OAD therapy was restarted. In conclusion, we observed that genetic susceptibility and abdominal obesity caused type 2 diabetes in this patient. We believe that oral antidiabetic agents and life-style changes may be the appropriate approach when diabetes is developed in LS patients.

  1. Reversible cerebral vasconstriction syndrome: A case report

    International Nuclear Information System (INIS)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young

    2013-01-01

    We report a 46-year-old woman patient with reversible cerebral vasoconstriction syndrome (RCVS). She presented with severe headache, multiple cerebral infarction, and multifocal severe stenosis in the intracranial arteries on magnetic resonance angiography (MRA). One month after the episode, a small bowel gastrointestinal stromal tumor (GIST) was incidentally detected during the evaluation of severe anemia and GIST was removed. Follow-up MRA was performed 3 months and 1 year after an initial attack of headache, and multifocal severe intracranial arterial stenotic lesions were completely resolved, she did not experience any episode of RCVS during the 2 years.

  2. Reversible cerebral vasconstriction syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jeong Sub; Park, Ji Kang; Kim, Seung Hyoung; Jeong, Sun Young [Jeju National University Hospital, Jeju National University School of Medicine, Jeju (Korea, Republic of)

    2013-11-15

    We report a 46-year-old woman patient with reversible cerebral vasoconstriction syndrome (RCVS). She presented with severe headache, multiple cerebral infarction, and multifocal severe stenosis in the intracranial arteries on magnetic resonance angiography (MRA). One month after the episode, a small bowel gastrointestinal stromal tumor (GIST) was incidentally detected during the evaluation of severe anemia and GIST was removed. Follow-up MRA was performed 3 months and 1 year after an initial attack of headache, and multifocal severe intracranial arterial stenotic lesions were completely resolved, she did not experience any episode of RCVS during the 2 years.

  3. Churg-Strauss Syndrome as an Unusual Cause of Dysphagia: Case Report.

    Science.gov (United States)

    Park, Jihye; Im, Sun; Moon, Su-Jin; Park, Geun-Young; Jang, Yongjun; Kim, Yeonjin

    2015-06-01

    Systemic vasculitis is a rare disease, and the diagnosis is very difficult when patient shows atypical symptoms. We experienced an unusual case of dysphagia caused by Churg-Strauss syndrome with lower cranial nerve involvement. A 74-year-old man, with a past history of sinusitis, asthma, and hearing deficiency, was admitted to our department for evaluation of dysphagia. He also complained of recurrent bleeding of nasal cavities and esophagus. Brain magnetic resonance imaging did not show definite abnormality, and electrophysiologic findings were suggestive of mononeuritis multiplex. Dysphagia had not improved after conventional therapy. Biopsy of the nasal cavity showed extravascular eosinophilic infiltration. All these findings suggested a rare form of Churg-Strauss syndrome involving multiple lower cranial nerves. Dysphagia improved after steroid therapy.

  4. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  5. Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome: a case report

    Directory of Open Access Journals (Sweden)

    He Anguang

    2011-09-01

    Full Text Available Abstract Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential. Herein, we report a case of dysgerminoma diagnosed in a dysgenetic gonad of a 21-year-old patient with Swyer syndrome.

  6. CASE SERIES Cubital tunnel syndrome: A report of two cases

    African Journals Online (AJOL)

    Cubital tunnel syndrome occurs as a result of compression of the ulnar nerve between the medial ... A 40-year-old man revealed high signal on T2W (T2 weighted). MRI in a thickened ... Pathological compression gives rise to cubital tunnel ...

  7. Duane Syndrome. Presentation of a case.

    Directory of Open Access Journals (Sweden)

    Pedra Palmero Aragón

    2010-04-01

    Full Text Available It was carried out an observational descriptive prospective longitudinal study including the period from march 2008 till june 20, 2008 in the Ophthalmology Service of the Provincial Educational Pediatric Hospital: “José Martí Pérez” in Sancti Spiritus, with the objective to identify the clinical and epidemiological characteristics of a patient with Duane Syndrome who went to consultation without receiving previous ophthalmological attention, the diagnosis age was determined, which was tardy, bracket the most affected eye and the kind of Duane, and also if there was any refractive defect and the presence of amblyopia , identifying the criteria for being operated, for collecting data a format was completed by the specialists, which included observation, interrogatory, ophthalmological medical record of the ill person and pictures, these elements allowed us to make a correct analysis. With the previous information we arrived as a conclusion that is all about a patient with 28 years of age who lives in Sancti Spiritus Municipality, with White skin, male, carried on the Duane Syndrome type I, unilateral left. A light Hypermetropia was presented in both eyes as a refractive defect, accompanied by a light bilateral amplyopia in the right eye and moderate in the left eye. It is necessary to stay that the patient was under surgical criterium by esotropia of more than 15 degrees in PPM and unacceptable torticollis although the time of evolution; there were no difficulties related to the surgical act. The postoperative picture can reflect the result of the surgery.

  8. SUNCT syndrome. Two cases in Argentina.

    Science.gov (United States)

    Raimondi, E; Gardella, L

    1998-05-01

    Two patients suffering from SUNCT syndrome are presented. Some features are remarkable. The first patient was a 69-year-old man whose first crisis was located in the right supraorbital region. After a 4-month spontaneous remission, the pain returned to the upper part of the cheek, radiating to the supraciliary region on the same side, with lacrimation and conjunctival injection. Rhinorrhea was absent. The painful attacks were triggered by head movements. Clinical improvement occurred with carbamazepine treatment. The second patient was a 48-year-old woman whose painful attacks lasted from 30 to 45 seconds followed by a burning sensation lasting 2 hours. Autonomic signs such as conjunctival injection, lacrimation, and edema and ipsilateral ptosis of the upper lid were rather marked. There was never any rhinorrhea. Her attacks were triggered by head and eye movements. She responded to the administration of corticosteroids and carbamazepine. According to these features, the two patients had SUNCT syndrome, and the positive carbamazepine response suggests a relationship with trigeminal neuralgia.

  9. Wolfram (DIDMOAD syndrome: A Case report

    Directory of Open Access Journals (Sweden)

    Abdullah Kürsat Cingü

    2009-01-01

    Full Text Available A 10 years old boy admitted to Ophthalmology Clinic with the complaint of low vision. His ophthalmologic examination showed decreased visual acuity as counting fingers from 2 meters in both eyes. Biomicroscopic examination of his both eyes was normal. Optic atrophy was apparent in his both eyes on fundoscopic examination. He has been followed with the diagnosis of diabetes mellitus type 1 for the last two years and had nocturnal enuresis. He was diagnosed as Wolfram (DIDMOAD syndrome based on the results of clinical and laboratory examinations. His medical management has been carried out carefully however he was no longer able to attend his school. His IQ was within normal ranges and he was referred to a school which educates visually disabled children. Wolfram syndrome can easily be diagnosed in outpatient clinics since it does not require a genetic analysis. Physicians should keep in mind this diagnosis during their daily practice and provide the best management to the patient by achieving interdisciplinary co-operation.

  10. DRESS syndrome with thrombotic microangiopathy revealing a Noonan syndrome: Case report.

    Science.gov (United States)

    Bobot, Mickaël; Coen, Matteo; Simon, Clémentine; Daniel, Laurent; Habib, Gilbert; Serratrice, Jacques

    2018-04-01

    The life-threatening drug rash with eosinophilia and systemic symptoms (DRESS) syndrome occurs most commonly after exposure to drugs, clinical features mimic those found with other serious systemic disorders. It is rarely associated with thrombotic microangiopathy. We describe the unique case of a 44-year-old man who simultaneously experienced DRESS syndrome with thrombotic microangiopathy (TMA) after a 5 days treatment with fluindione. Clinical evaluation leads to the discovery of an underlying lymphangiomatosis, due to a Noonan syndrome. The anticoagulant was withdrawn, and corticosteroids (1 mg/kg/day) and acenocoumarol were started. Clinical improvement ensued. At follow-up the patient is well. The association of DRESS with TMA is a rare condition; we believe that the presence of the underlying Noonan syndrome could have been the trigger. Moreover, we speculate about the potential interrelations between these entities.

  11. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.

    Science.gov (United States)

    Fini, G; Belli, E; Mici, E; Virciglio, P; Moricca, L M; D'Itri, L; Leonardi, A; Malavenda, M S; Krizzuk, D; Merola, R; Maturo, A; Pasta, V

    2013-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis Criteria) and genetic ones. We studied one family where father and then his sun resulted affected by each syndrome. Gorlin-Goltz syndrome is a rare disease diagnosed according to clinical criteria sometimes difficult to integrate. The family case we presented shows how you can get diagnosis even in older age and after numerous surgeries. Patients should be given special attention and therefore should be monitorized and need multidisciplinary treatments continued in time, even a trivial change of signs and symptoms may be an important indicator of a precipitating event which puts the patient's life under threat.

  12. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

    Science.gov (United States)

    Beneteau, Claire; Cavé, Hélène; Moncla, Anne; Dorison, Nathalie; Munnich, Arnold; Verloes, Alain; Leheup, Bruno

    2009-10-01

    We report five cases of multiple giant cell lesions in patients with typical Noonan syndrome. Such association has frequently been referred to as Noonan-like/multiple giant cell (NL/MGCL) syndrome before the molecular definition of Noonan syndrome. Two patients show mutations in PTPN11 (p.Tyr62Asp and p.Asn308Asp) and three in SOS1 (p.Arg552Ser and p.Arg552Thr). The latter are the first SOS1 mutations reported outside PTPN11 in NL/MGCL syndrome. MGCL lesions were observed in jaws ('cherubism') and joints ('pigmented villonodular synovitis'). We show through those patients that both types of MGCL are not PTPN11-specific, but rather represent a low penetrant (or perhaps overlooked) complication of the dysregulated RAS/MAPK signaling pathway. We recommend discarding NL/MGCL syndrome from the nosology, as this presentation is neither gene-nor allele-specific of Noonan syndrome; these patients should be described as Noonan syndrome with MGCL (of the mandible, the long bone...). The term cherubism should be used only when multiple giant cell lesions occur without any other clinical and molecular evidence of Noonan syndrome, with or without mutations of the SH3BP2 gene.

  13. Clinicai analysis of 12 cases with Tourtte Syndrome

    Institute of Scientific and Technical Information of China (English)

    Lu Xiudong; Dong Aiqin; Meng Suqi

    2000-01-01

    Objective To in vestigate the diagnosis and treatment of Toarette Syndrome. Method We studied the clinical features and drug therapy of 12 cases with Tourette Syndrome, 10 male, 2 female,1l with age of 7-16 years, 1 was 40 years old. The major symptoms were multiple tic seizure, Companied bystrange voices episode. The CT scan did not find abnormal changes. Wechsler intelligence tests were normal. All patients were giveu Tabellae Tiapridi, 150 to 300ms daily for 6-10 months. Result 5 cases were completely cured, 3 were obviously effective, 2 were improved, 2 were unhelpful. The effective rate was more than 80 per cent. Conclusion Tourette Syndrome is a frequent chronic neural psychical disorder in child. The treatment with Tiapridi was secure and effective.

  14. Pregnancy and Evans´ syndrome: case report

    Directory of Open Access Journals (Sweden)

    Santiago Artucio

    2015-12-01

    Full Text Available Evans´ syndrome is the coexistence of autoimmune thrombocytopenia with autoimmune hemolytic anemia. It is rarely found during the course of a pregnancy. This makes treatment options more difficult, since some therapeutic drugs are teratogenic. The effects of Evans´ syndrome in the fetus and newborn are unknown given the low number of reported cases. We report the case of a patient with preconceptional diagnosis of Evans´ syndrome, who develops a hemolytic crisis during the course of a pregnancy, and diagnosis of intrauterine growth restriction (IUGR, treated at Clínica Ginecotocológica “A” at the Pereira Rossell Hospital Center, in Montevideo, Uruguay. Treatment options and evolution are analyzed, as well as previous reports.

  15. Prenatal diagnosis of Caudal Regression Syndrome : a case report

    Directory of Open Access Journals (Sweden)

    Celikaslan Nurgul

    2001-12-01

    Full Text Available Abstract Background Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Case presentation We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis. Conclusion Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.

  16. A case of phace syndrome and acquired hypopituitarism?

    Directory of Open Access Journals (Sweden)

    Denzer Friederike

    2012-06-01

    Full Text Available Abstract Background PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies. Case vignette We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency. Conclusions This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.

  17. CLINICAL CASE OF PARKES-WEBER-RUBASHOV SYNDROME

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    Zhdonec S. V.

    2018-03-01

    Full Text Available A clinical case of one variant of congenital venous angiodysplasia – Parkes Weber-Rubashov syndrome of the right lower extremity is presented in the article. The features of its clinical presentation and diagnosis difficulties are described. The analysis of the scientific data and own clinical observation showed that Parkes Weber-Rubashov syndrome belongs to the rare congenital disease of the vascular system, in some cases with the absence of typical clinical manifestations and combination with other disorders of the venous system. The best method for diagnosing the syndrome is radiopaque arteriography. The separation of the patent’s arteriovenous fistulas is justified as a radical method of its surgical treatment.

  18. First Case Report of Prader–Willi-Like Syndrome in Colombia

    Directory of Open Access Journals (Sweden)

    Estephania Candelo

    2018-03-01

    Full Text Available Background: Prader–Willi-like syndrome (PWLS is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

  19. First Case Report of Prader-Willi-Like Syndrome in Colombia.

    Science.gov (United States)

    Candelo, Estephania; Feinstein, Max M; Ramirez-Montaño, Diana; Gomez, Juan F; Pachajoa, Harry

    2018-01-01

    Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

  20. [Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

    Science.gov (United States)

    Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

    2006-01-01

    We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

  1. A case of adrenal Cushing's syndrome with bilateral adrenal masses.

    Science.gov (United States)

    Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei; Lin, Liang-Yu

    2016-01-01

    A functional lesion in corticotrophin (ACTH)-independent Cushing's syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and (131)I-6β-iodomethyl-19-norcholesterol ((131)I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (Cushing's syndrome presenting with bilateral adrenal masses. The clinical presentation of Cushing' syndrome includes symptoms and signs of fat redistribution and protein-wasting features.The diagnosis of patients with ACTH-independent Cushing's syndrome with bilateral adrenal masses is challenging for localisation of the lesion.Both adrenal venous sampling and (131)I-NP-59 scintigraphy are good methods to use in these patients with Cushing's syndrome presenting with bilateral adrenal masses.

  2. Churg-Strauss syndrome associated with AA amyloidosis: a case ...

    African Journals Online (AJOL)

    Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia (1150/μL), positive ...

  3. Ortner’s syndrome: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Bruno Landim Dutra

    2015-08-01

    Full Text Available AbstractThe authors report the case of a 55-year-old female, hypertensive, smoker patient presenting with dysphonia, dysphagia and persistent dry cough. Laryngoscopy diagnosed left vocal cord paralysis. Computed tomography demonstrated saccular aneurysm of the inferior wall of the aortic arch, stretching the left recurrent laryngeal nerve, a finding compatible with Ortner’s syndrome.

  4. Kleine-Levin syndrome as a neuropsychiatric presentation: A case ...

    African Journals Online (AJOL)

    2014-07-02

    Jul 2, 2014 ... describes a case of typical KLS, the first to be documented in South. Africa (SA), and ... re admitted with a second episode of aggression, hypersomnia, headaches .... of KLS, Arnulf et al. ... Neurol 2010;13(4):241-246. ... Muratori F, Bertini N, Masi G. Efficacy of lithium treatment in Kleine-Levin syndrome. Eur.

  5. A particular case of deafness-oligodontia syndrome.

    Science.gov (United States)

    Marlin, S; Denoyelle, F; Busquet, D; Garabedian, N; Petit, C

    1998-06-01

    Two previous case reports described two sibs affected with both sensorineural hearing loss and oligodontia. Here, we report a similar syndrome in a male patient with an, as yet, undescribed vestibular aqueduct enlargement on tomodensitometry. The analysis of the parent's audiograms is consistent with the suggested autosomal recessive mode of inheritance of this disorder.

  6. A case of Gilles de la Tourette's syndrome

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    Jyoti Prakash

    2015-01-01

    Full Text Available Gilles de la Tourette's syndrome is an uncommon illness associated with repetitive un-voluntary abnormal movements and utterance. It is often associated with other psychiatric morbidities. Management requires awareness of this uncommon illness, keen observation, relevant evaluation, and combination of pharmacology and psychotherapy for an optimal outcome. This case is brought out here for florid presentation and nuances of management.

  7. A case report of acute myelogenous leukemia with Turner Syndrome.

    Science.gov (United States)

    Siddiqui, Nadir; Ali Baig, Mirza Faris; Khan, Bilal Ahmed

    2017-09-01

    Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]. Turner syndrome is caused by partial or complete absence of second X chromosome in a female. It is known to have Cardiovascular and Reproductive complications but it is rare to find haematologic malignancies. There are few similar reported cases of AML associated with Turner syndrome, therefore this is a unique case presented to Jinnah Postgraduate Medical Center, Karachi, Pakistan and further research should be done to identify more similar cases to explore the prognostic significance of this association.

  8. Savant Syndrome: Case Studies, Hypotheses, and Implications for Special Education.

    Science.gov (United States)

    Cheatham, Susan Klug; And Others

    1995-01-01

    The concept of savant syndrome, encompassing those individuals historically known as "idiot savants," is reviewed. Case studies demonstrating special abilities in the areas of calendar calculating, musical ability, artistic talent, memorization, mathematical skills, mechanical achievement, and fine sensory discrimination are discussed,…

  9. Anti-Phospholipid Syndrome In Nigeria: Report Of Five Cases ...

    African Journals Online (AJOL)

    Five cases of secondary anti-phospholipid syndrome (APS) are presented and literature reviewed. Pregnancy loss was the most common presentation but neurologic manifestations are also seen. IgG ACA was more commonly seen than IgM ACA. Although APS has been infrequently reported in black Africans, ...

  10. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature ... skin over the right leg from the knee joint up to the middle of the right foot. ... Examination indicated no signs of child abuse; the parents refused an ...

  11. Ectopic decidual reaction mimicking irritable bowel syndrome: a case report.

    Directory of Open Access Journals (Sweden)

    Soraya Salehgargari

    2014-01-01

    Full Text Available Ectopic decidualization with gross involvement of the peritoneum is one of the rare findings in pregnant women particularly when ectopic decidualization disseminated as an asymptomatic intra-abdominal nodule. We present here a case of an ectopic decidualization in a 33-year-old pregnant woman with symptoms of irritable bowel syndrome during pregnancy.

  12. A case of Kartagener syndrome with rhinolalia clausa | Raoufi | Pan ...

    African Journals Online (AJOL)

    Kartagener syndrome is an autosomal recessive genetic ciliary disorder comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. It's the one of primary ciliary dyskinesia disorders with manifestations present from childhood. Most patients of PCD have situs inversus. We present a case of 18 year-old women ...

  13. Exploding head syndrome: a case report.

    Science.gov (United States)

    Ganguly, Gautam; Mridha, Banshari; Khan, Asif; Rison, Richard Alan

    2013-01-01

    Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang. The etiology is unknown, but other conditions including primary and secondary headache disorders and nocturnal seizures need to be excluded. A 57-year-old Indian male presented with four separate episodes of awakening from sleep at night after hearing a flashing sound on the right side of his head over the last 2 years. These events were described 'as if there are explosions in my head'. A neurologic examination, imaging studies, and a polysomnogram ensued, and the results led to the diagnosis of EHS. EHS is a benign, uncommon, predominately nocturnal disorder that is self-limited. No treatment is generally required. Reassurance to the patient is often all that is needed.

  14. Anton-Babinski syndrome, case report.

    Science.gov (United States)

    Martín Juan, A; Madrigal, R; Porta Etessam, J; Sáenz-Francés San Baldomero, F; Santos Bueso, E

    2018-05-30

    A 22 year-old woman complained about blurred vision after an episode of recovered cardiorespiratory arrest. She had bilateral low visual acuity («count fingers») and no ophthalmological or visual pathways changes. She also had an apparent lack of awareness of the deficit. The Magnetic Resonance Imaging (MRI) showed ischaemic changes in both occipital lobes. As a result, she was diagnosed with Anton-Babinski syndrome. This is a rare disease that should be suspected in strange or poorly congruent visual loss. It is usually due to an ischaemic injury in this region of brain, manifesting itself with low vision not perceived by the patient (visual confabulation). It can simulate a non-organic visual loss or psychiatric disease. Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Cochlear vertebral entrapment syndrome: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Liu Chinghsiung; Lin Shinnkuang E-mail: sk1943@adm.cgmh.org.tw; Chang Yeujhy

    2001-11-01

    The authors describe a patient with isolated involvement of vestibulocochlear nerve by a huge vascular loop from vertebral dolichoectasia. No other neurological deficit was found except for unilateral hearing loss. Abnormal brainstem auditory evoked potential study indicated a retrocochlear lesion. The brain computed tomography (CT) and magnetic resonance imaging (MRI) studies demonstrated an abnormally enhanced vascular lesion impinged on the left porus acusticus with a displacement of the brainstem to the right. There was no infarction in the brainstem. A cerebral angiography demonstrated a megadolichoectatic horizontal loop at the intracranial portion of the left vertebral artery. There was no thrombus or atherosclerosis in the vertebrobasilar system. A mechanical compression by a vascular loop is the only possible pathogenesis for hearing loss. The authors diagnose this condition as cochlear vertebral entrapment syndrome.

  16. Budd-Chiari Syndrome: Two Cases with Different Courses

    Directory of Open Access Journals (Sweden)

    Shinjiro Inomata

    2008-08-01

    Full Text Available We report two cases of Budd-Chiari syndrome. Case 1: A 57-year-old man presented with leg edema and esophageal varices. Cavography showed obstruction of the inferior vena cava with antiphospholipid syndrome. Further, the patient showed positive serology for hepatitis C virus and consumed large quantities of alcohol. Percutaneous transluminal angioplasty was performed on this patient and anticoagulants administered; leg edema and esophageal varices were ameliorated although liver biopsy showed cirrhosis without evident congestion. More than 9 months since the diagnosis, restenosis of the inferior vena cava has not occurred. Case 2: A 73-year-old woman presented abdominal pain but no edema or varices. Cavography showed membranous obstruction of the inferior vena cava which required no therapy. Manifestation of portal hypertension was not present and liver function was maintained although liver biopsy showed obvious congestion. These cases showed untypical features against histopathology, and careful observation will be required for emergence of hepatocellular carcinoma.

  17. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  18. [Two cases of rehabilitation in Ehler-Danlos syndrome].

    Science.gov (United States)

    Le Tallec, H; Lassalle, A; Khenioui, H; Durufle, A; Plassat, R; Gallien, P

    2006-03-01

    Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

  19. Eagle Syndrome Causing Vascular Compression with Cervical Rotation: Case Report

    International Nuclear Information System (INIS)

    Demirtaş, Hakan; Kayan, Mustafa; Koyuncuoğlu, Hasan Rıfat; Çelik, Ahmet Orhan; Kara, Mustafa; Şengeze, Nihat

    2016-01-01

    Eagle syndrome is a condition caused by an elongated styloid process. Unilateral face, neck and ear pain, stinging pain, foreign body sensation and dysphagia can be observed with this syndrome. Rarely, the elongated styloid process may cause pain by compressing the cervical segment of the internal carotid and the surrounding sympathetic plexus, and that pain spreading along the artery can cause neurological symptoms such as vertigo and syncope. In this case report we presented a very rare eagle syndrome with neurological symptoms that occurred suddenly with cervical rotation. The symptoms disappeared as suddenly as they occurred, with the release of pressure in neutral position. We also discussed CT angiographic findings of this case. Radiological diagnosis of the Eagle syndrome that is manifested with a wide variety of symptoms and causes diagnostic difficulties when it is not considered in the differential diagnosis is easy in patients with specific findings. CT angiography is a fast and effective examination in terms of showing compression in patients with the Eagle syndrome that is considered to be atypical and causes vascular compression

  20. An Unusual Os Trigonum Syndrome Case Secondary to Car Accident: A Case Report

    Directory of Open Access Journals (Sweden)

    Safer

    2016-03-01

    Full Text Available Introduction The os trigonum syndrome is a common cause of posterior ankle pain, often affecting ballet dancers, soccer players, runners and gymnasts who frequently force the ankle into plantar flexion. In rare cases, onset of the os trigonum syndrome followed an acute injury. Case Presentation A 62-year-old female patient was admitted with load depended ankle pain and swelling, lasting for five years which promptly started after a car accident. We incidentally discovered os trigonum on plain radiography on a lateral view of the right ankle. Conclusions The os trigonum syndrome should take in consideration in elderly subject who had posterior ankle pain starting after a car accident.

  1. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

    Science.gov (United States)

    von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

    2013-06-01

    Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

  2. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

    Directory of Open Access Journals (Sweden)

    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  3. [Cotard's syndrome: Case report and a brief review of literature].

    Science.gov (United States)

    Moschopoulos, N P; Kaprinis, S; Nimatoudis, J

    2016-01-01

    The term "Cotard's syndrome" is used to describe a number of clinical features, mostly hypochondriac and nihilistic delusions, the most characteristic of which are the ideas "I am dead" and "my internal organs do not exist". Besides, anxious and depressed mood, delusions of damnation, possession and immortality, suicidal and self-mutilating behavior are included. The first description of the syndrome was made in 1880 by Cotard, who presented the case of a female patient in a lecture. He originally named it "hypochondriac delusion", and some years later "delusion of negations", while it was named "Cotard delusion" after his death. In international literature, the terms "nihilistic delusion" and "Cotard's syndrome" prevailed over "delusion of negations" and "Cotard delusion". In the present study we report the case of a 59 year-old woman, who was admitted to our department after a suicide attempt, and who showed symptoms of Cotard's syndrome for about two years, namely depressed mood, hypochondriac and nihilistic delusions, delusions of immortality and damnation, suicidal ideation, severe psychomotor retardation, diminished motivation and tendency to stay in bed. She never took the medication she was prescribed, and at times she refused to eat. During her hospitalization, there was performed a full blood panel and medical imaging, that showed chronic ischemic infarctions, periventricular leukoencephalopathy and diffuse cerebral atrophy in MRI. All the other test results were normal. She was administered treatment with haloperidol, mirtazapine and venlafaxine. Gradually, her psychomotor ability, motivation and mood improved, she didn't express suicidal ideation, her delusions were less intense and she was able to question them, but they weren't eliminated. She was discharged in improved condition, after 44 days. Cotard's syndrome isn't mentioned in the current classification systems (ICD-10, DSM-5). In literature though, it has been divided into three types, according

  4. Cronkhite-Canada Syndrome (CCS)-A Rare Case Report.

    Science.gov (United States)

    Chakrabarti, Subrata

    2015-03-01

    Cronkhite-Canada syndrome (CCS) is an extremely rare non-inherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, weight loss and diarrhoea. The aetiology is probably autoimmune and diagnosis is based on history, physical examination, endoscopic findings of gastrointestinal polyposis, and histology. The disease is very rare; approximately 450 cases of CCS have been reported worldwide. The author reports a case of CCS in an elderly Indian male.

  5. Metabolic syndrome definitions and components in predicting major adverse cardiovascular events after kidney transplantation.

    Science.gov (United States)

    Prasad, G V Ramesh; Huang, Michael; Silver, Samuel A; Al-Lawati, Ali I; Rapi, Lindita; Nash, Michelle M; Zaltzman, Jeffrey S

    2015-01-01

    Metabolic syndrome (MetS) associates with cardiovascular risk post-kidney transplantation, but its ambiguity impairs understanding of its diagnostic utility relative to components. We compared five MetS definitions and the predictive value of constituent components of significant definitions for major adverse cardiovascular events (MACE) in a cohort of 1182 kidney transplant recipients. MetS definitions were adjusted for noncomponent traditional Framingham risk factors and relevant transplant-related variables. Kaplan-Meier, logistic regression, and Cox proportional hazards analysis were utilized. There were 143 MACE over 7447 patient-years of follow-up. Only the World Health Organization (WHO) 1998 definition predicted MACE (25.3 vs 15.5 events/1000 patient-years, P = 0.019). Time-to-MACE was 5.5 ± 3.5 years with MetS and 6.8 ± 3.9 years without MetS (P < 0.0001). MetS was independent of pertinent MACE risk factors except age and previous cardiac disease. Among MetS components, dysglycemia provided greatest hazard ratio (HR) for MACE (1.814 [95% confidence interval 1.26-2.60]), increased successively by microalbuminuria (HR 1.946 [1.37-2.75]), dyslipidemia (3.284 [1.72-6.26]), hypertension (4.127 [2.16-7.86]), and central obesity (4.282 [2.09-8.76]). MetS did not affect graft survival. In summary, although the WHO 1998 definition provides greatest predictive value for post-transplant MACE, most of this is conferred by dysglycemia and is overshadowed by age and previous cardiac disease. © 2014 Steunstichting ESOT.

  6. [New definition of metabolic syndrome: does it have the same cardiovascular risk?].

    Science.gov (United States)

    Rodilla, E; González, C; Costa, J A; Pascual, J M

    2007-02-01

    The International Diabetes Federation (IDF) has recently published the new criteria for the diagnosis of metabolic syndrome. The aim of this study was to compare the clinical characteristics and cardiovascular risk of the new patients with MS compared to the previous National Cholesterol Education Program ATP III definition, its differential characteristics and cardiovascular risk. Cross sectional study in a hypertension clinic. Coronary risk was calculated (Framingham function NCEP-ATP III) and other cardiovascular markers, urinary albumin excretion (UAE in mg/24 hours) and high sensitivity C-reactive protein (CRP) were assessed. A total 2,404 patients were evaluated, 1,901 non-diabetic and 503 diabetic hypertensive subjects. The non-diabetics 726 (38.2%) had MS with the previous NCEP ATP-III definition, the number increasing sharply to 1,091 (57.4%) with the new IDF definition. The proportion did not increase in diabetics (93% vs. 92%). Concordance in the diagnosis was 78% in non-diabetics and 91% in diabetics. The new patients had a similar coronary risk (Framingham) but lower values of other cardiovascular markers: logUAE 1.00 (0.49) mg/24 hours vs. 1.06 (0.55) mg/24 hours (p = 0.003), and CRP 1.9 (2.7) mg/L vs. 2.5 (3.2) mg/L (median, interquartile range; p < 0.001). The new IDF definition of MS increases the number of patients with MS. The new patients have a similar coronary risk (Framingham) but the new parameters used to assess cardiovascular risk (UAE and CRP) were lower. The relationship of the new definition of MS and cardiovascular risk remains to be defined.

  7. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  8. The neuroradiological findings in a case of Revesz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Scheinfeld, Meir H. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Montefiore Medical Center, Department of Radiology, Bronx, NY (United States); Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Radiology, Bronx, NY (United States); Kolb, Edward A. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pediatrics, The Children' s Hospital at Montefiore, Bronx, NY (United States); Engel, Harry M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Ophthalmology, Bronx, NY (United States); Weidenheim, Karen M. [Montefiore Medical Center, Albert Einstein College of Medicine, Department of Pathology, Bronx, NY (United States)

    2007-11-15

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  9. Radiological features of Lemierre's syndrome: A case report

    International Nuclear Information System (INIS)

    Tapia-Vine, M. M.; Gonzalez-Garcia, B.; Bustos, A.; Cabello, J.

    2001-01-01

    Lemierre's syndrome is a type of sepsis caused by anaerobes that is secondary to a pharyngotonsillar infection complicated by suppurative thrombophlebitis of ipsilateral jugular vein and septic emboli. Imaging studies are valuable tools for confirming the diagnosis. Chest x-ray reveals poorly defined cavitated, peripheral, nodular lesions. computed tomography (CT) is useful in confirming the pulmonary lesions, which are suggestive of septic emboli. Doppler ultrasound of the neck plays and indispensable role in demonstrating the internal jugular vein thrombosis. We report the case of patient who presented the characteristic clinical and radiological features of Lemierre's syndrome. (Author) 17 refs

  10. Serotonin syndrome:case report and current concepts.

    LENUS (Irish Health Repository)

    Fennell, J

    2005-05-01

    Selective serotonin reuptake inhibitors (SSRI\\'s) are increasingly being used as the first line therapeutic agent for the depression. It is therefore not unusual to see a case of overdose with these agents. More commonly an adverse drug reaction may be seen among the older patients who are particularly vulnerable to the serotonin syndrome due to multiple co-morbidity and polypharmacy. The clinical picture of serotonin syndrome (SS) is non-specific and there is no confirmatory test. SS may go unrecognized because it is often mistaken for a viral illness, anxiety, neurological disorder or worsening psychiatric condition.

  11. Aicardi syndrome: a case report and radiologic findings

    International Nuclear Information System (INIS)

    Granzotto, Enrico; Prado, Cecilia Hissae Miyake Almeida; Barros, Andre Della Barba; Botter, Carlos Eduardo; Mendes, Rozana de Miranda; Granzotto, Ticiana

    2008-01-01

    The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

  12. Hallervorden Spatz syndrome: magnetic resonance findings. Case report

    International Nuclear Information System (INIS)

    Farage, Luciano; Castro, Mario Augusto Padula; Macedo, Tulio Augusto Alves; Assis, Marcelo Cardoso de; Souza, Lincoln Pereira de; Freitas, Luiz Oliveira de

    2004-01-01

    Hallervorden-Spatz syndrome is a neuro degenerative disease, autosomic recessive with two clinical features: early and late onset. Psychiatric, pyramidal and extrapyramidal signs are present in the late subtype. We report the case of a 41-old woman with extrapyramidal signs. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the medial globus pallidus. This is due to a gliosis (increased signal) and accumulation of surrounding iron (decreased signal intensity) in long T R sequences. There is a strong relationship between MRI findings and the gene mutation responsible for this disease. It makes the MRI sensible for diagnosing this syndrome. (author)

  13. Granulomatous slack skin syndrome: Report of a unique case.

    Science.gov (United States)

    Maheswari, S Uma; Sampath, V; Ramesh, A

    2018-01-01

    Granulomatous slack skin syndrome is a rare variant of cutaneous T-cell lymphoma (mycosis fungoides). It is characterized clinically by redundant skin folds, which show a predilection towards flexural areas such as the axilla and the groin. Histologically, it shows a granulomatous T-cell infiltrate and loss of elastic tissue. It has an indolent but progressive course; and is usually refractory to treatment. We report a unique case of slack skin syndrome, sparing the classical sites with rapid and unusual involvement of non-intertriginous areas.

  14. The neuroradiological findings in a case of Revesz syndrome

    International Nuclear Information System (INIS)

    Scheinfeld, Meir H.; Lui, Yvonne W.; Gomes, William A.; Bello, Jacqueline A.; Kolb, Edward A.; Engel, Harry M.; Weidenheim, Karen M.

    2007-01-01

    Revesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided. (orig.)

  15. Gianotti-Crosti syndrome: a case report of a teenager.

    Science.gov (United States)

    Pedreira, Renata Leite; Leal, Juliana Martins; Silvestre, Keline Jácome; Lisboa, Alice Paixão; Gripp, Alexandre Carlos

    2016-01-01

    Gianotti-Crosti syndrome is a rare disease characterized by acral papular eruption with symmetrical distribution. It is a benign and self-limited disease; the symptoms disappear after two to eight weeks, without recurrences or scars. Skin lesions are usually asymptomatic. Prodrome might occur, suggesting upper respiratory infection, or constitutional symptoms. Diagnosis is eminently clinical, and this disease is associated with viral infections. Due to its rarity and low occurrence in adolescents and adults, we report a case of Gianotti-Crosti syndrome of a teenager.

  16. Diagnosis and Management of 253 Cases with Cushing's syndrome in Imam Khomeini Hospital

    Directory of Open Access Journals (Sweden)

    Esteghamati A.R

    2007-09-01

    Full Text Available Background: Definite diagnosis and treatment of Cushing's syndrome is still a dilemma. The aim of this study was to evaluate the accuracy of diagnostic tests and follow-up of patients with Cushing's syndrome."nMethods: Two hundred and fifty three consecutive cases with Cushing's syndrome during 1370-78 were studied. The screening tests were performed in all patients. High dose dexamethasone suppression test (HDDST and ACTH measurement were carried out. MRI/CT Scan were performed and compared with laboratory data and pathologic specimens as a gold standard test."nResults: The age range was 32±11 yrs. The most frequent symptoms were weakness; hypertension, typical striae, and depression .The frequency of hypertension in ACTH-dependent case were 77% vs. 36% in adrenal tumors (P< 0.001. HDDST was positive in 99% of micro and 71% of macroadenomas. Adrenal tumors showed 3.6% suppression but none in ectopic cases. HDDST had a sensitivity of 98%, specificity of 97% and accuracy equals to 98%. The frequency of different etiologies was as following: Cushing's disease in 64.8%, adrenal tumors in 32.8% and ectopic ACTH in 2.4% of patients. Trans-sphenoidal surgery (TSS was performed in 120 patients .The patients were followed for 53±25 months whose remission periods were 46.7±23.8 months (range 4-114 months. Survival analysis showed 93% remission rate in 12mo, 82% in 2yr and only 33% after 5yr.This recurrence didn't have any platue level."nConclusion: In our study, hypertension was more prevalent in ACTH-dependent Cushing's syndrome. HDDST had acceptable sensitivity, specificity and accuracy. Lifelong follow up of pituitary adenomas is inevitable in the case of progressive and gradual nature of recurrence in these tumors.

  17. Mayer–Rokitansky–Kuster–Hauser syndrome: Syndrome of Mullerian agenesis – A report of two cases

    Directory of Open Access Journals (Sweden)

    Sushma Yalavarthi

    2017-01-01

    Full Text Available The Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH syndrome, simply called Rokitansky syndrome or vaginal aplasia of the uterus, is a congenital condition that is characterized by the absence of the uterus and vagina, but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I, but it is more frequently associated with renal, vertebral, and to a lesser extent, auditory and cardiac defects (MRKH Type II or Mullerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies association - mullerian duct aplasia, renal dysplasia, and cervical somite anomalies. There were very few cases of MRKH syndrome reported in the literature. Here, we report two cases of MRKH syndrome, one in a 20-year-old woman who presented with primary amenorrhea (MRKH Type I and the other in a 65-year-old woman with primary amenorrhea and associated renal malformations and a rare ovarian sertoliform variant of endometrioid tumor (MRKH Type II.

  18. MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

    Science.gov (United States)

    Rudnicki, Michael; Mayr, Johannes A; Zschocke, Johannes; Antretter, Herwig; Regele, Heinz; Feichtinger, René G; Windpessl, Martin; Mayer, Gert; Pölzl, Gerhard

    2016-12-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA Leu(UUR) . Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria. While the patient was waitlisted for heart transplantation, her kidney function deteriorated from an estimated glomerular filtration rate of 33 to 20mL/min/1.73m 2 within several months. Kidney biopsy was performed to distinguish decreased kidney perfusion from intrinsic kidney pathology. Histologic examination of the biopsy specimen showed only a moderate degree of tubular atrophy and interstitial fibrosis, but quantitative analysis of the m.3243A>G mitochondrial DNA mutation revealed high heteroplasmy levels of 89% in the kidney. Functional assessment showed reduced activity of mitochondrial enzymes in kidney tissue, which was confirmed by immunohistology. In conclusion, we describe an unusual case of MELAS syndrome with chronic kidney disease without apparent proteinuria or tubular disorders associated with Fanconi syndrome, but widespread interstitial fibrosis and a high degree of heteroplasmy of the MELAS specific mutation and low mitochondrial activity in the kidney. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  19. Ramsay Hunt syndrome in a child – case report

    Directory of Open Access Journals (Sweden)

    Joanna Grabowska

    2016-12-01

    Full Text Available Introduction. Ramsay Hunt syndrome is a rare disease characterized by complications of herpes zoster oticus. This syndrome is defined by characteristic skin lesions with paresis of the facial and/or vestibulocochlear nerve. Objective. To present a case of a 14-year-old child with Ramsay Hunt syndrome. Case report . A 14-year-old patient was admitted to the Department of Dermatology due to vesicular lesions in the left auricular region. On medical examination, insufficiency of the left eyelid, asymmetry of the facial lines, drooping of the left corner of the mouth, and smoothing of the forehead were observed. According to the House-Brackmann scale, the patient had paresis (grade IV of the facial nerve. The patient was treated with intravenous acyclovir, antibiotics and anti-inflammatory drugs. Supplementation with vitamin B and rehabilitation procedures were also introduced. Conclusions . Ramsay Hunt syndrome is very rare in the pediatric population. It requires interdisciplinary cooperation between doctors. The presented case confirms the validity of therapy with acyclovir and prednisone and rehabilitation.

  20. Comparison of Prevalence and Outcomes of Pediatric Acute Respiratory Distress Syndrome Using Pediatric Acute Lung Injury Consensus Conference Criteria and Berlin Definition.

    Science.gov (United States)

    Gupta, Samriti; Sankar, Jhuma; Lodha, Rakesh; Kabra, Sushil K

    2018-01-01

    Our objective was to compare the prevalence and outcomes of pediatric acute respiratory distress syndrome using the Pediatric Acute Lung Injury Consensus Conference (PALICC) criteria and Berlin definitions. We screened case records of all children aged 1 month to 17 years of age admitted to the Pediatric Intensive Care Unit (PICU) over a 3-year period (2015-2017) for presence of any respiratory difficulty at admission or during PICU stay. We applied both PALICC and Berlin criteria to these patients. Data collection included definition and outcome related variables. Data were compared between the "PALICC only group" and the "Berlin with or without PALICC" group using Stata 11. Of a total of 615 admissions, 246 were identified as having respiratory difficulty at admission or during PICU stay. A total of 61 children (prevalence 9.9%; 95% CI: 7.8-12.4) fulfilled the definition of acute respiratory distress syndrome (ARDS) with either of the two criteria. While 60 children (98%) fulfilled PALICC criteria, only 26 children (43%) fulfilled Berlin definition. There was moderate agreement between the two definitions (Kappa: 0.51; 95% CI: 0.40-0.62; observed agreement 85%). Greater proportion of patients had severe ARDS in the "Berlin with or without PALICC group" as compared to the "PALICC only" group (50 vs. 19%). There was no difference between the groups with regard to key clinical outcomes such as duration of ventilation (7 vs. 8 days) or mortality [51.4 vs. 57.7%: RR (95% CI): 0.99 (0.64-1.5)]. In comparison to Berlin definition, the PALICC criteria identified more number of patients with ARDS. Proportion with severe ARDS and complications was greater in the "Berlin with or without PALICC" group as compared to the "PALICC only" group. There were no differences in clinical outcomes between the groups.

  1. Silent Sinus Syndrome: A Retrospective Review of 11 Cases

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    Karima DARGHAL

    2014-06-01

    Full Text Available Objective: The purpose of this study is to describe the clinical and radiological features of SSS, and to review therapeutic possibilities and their outcomes.Patients and Methods: Retrospective observational case series in the department of Arthur Vernes Institute between Mars 2007 and  Novembre 2012. Clinical records, including ophthalmology and otolaryngology evaluations as well as computed tomography scans and operative reports, were carefully examined. A literature review for relevant studies was performed to examine similar cases.Results: Eleven cases of  SSS were identified. Nine men and two women (sex ratio 4.5, aged between 23 and 54 years (mean, 30 years. there was 3 to 4 mm enophthalmos in 10 cases (90.9%, and hypoglobus in all cases, with no effect on visual function. In all 11 cases, the maxillary roof (orbital floor was drawn downwards, and the one or more walls of the maxilla were concave. In 4 cases septal deviation was present. 8 patients (72.7% underwent endoscopic sinus surgery, while 3 refused it. Septoplasty was performed in 4 cases (36.3%.Conclusion: The silent sinus syndrome is a rare entity. It mainly presents as unilateral enophthalmos in younger people and has very characteristic clinical and radiologic signs.This case series reports our diagnostic and therapeutic experience with this syndrome.

  2. A case of idiopathic intracranial calcifications - Hahr syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Balev, B.; Georgieva, M.; Georgiev, J.

    2006-01-01

    Full text: The purpose of the study is to review the clinical manifestation, imaging characteristics and pathophysiology of the Fahr syndrome and to present a case of the Fahr syndrome from our clinic. The Fahr syndrome is a rare neurodegenerative disorder, characterized by seizures, tetany, psychomotor retardation, development of a spastic paralysis, athetosis and parkinson like syndrome. It is inherited by an AR way but in affected families (relatives) an AD way is also possible. Sporadic cases have been known. Recently a possible chromosome locus on 14q was proved. Probably the case in point is a group of anomalies, in which symmetrically and bilaterally significant calcifications in the region of the basal ganglia, dentate nuclei in cerebellum and centrum semiovale are found. It is not clear yet whether these calcifications are a result from a 'metastatic' deposition because of a local destruction of the blood-brain barrier or are due to a disturbance in the neuronic calcium metabolism. The X-ray findings could be accidental in an asymptomatic patient but a progressive development of an extrapyramidal syndrome may be also observed. Our case is a 37 years old woman with seizures with loss of consciousness, convulsions and urine incontinence. The complaints are dated from the age of 5 years old. The X-ray images disclosed striking non-natural calcifications in globus pallidus, putamen, n.caudatus, thalami, n.dentati, cerebellum.The blood test revealed normal serum levels of calcium, phosphorus, alkaline phosphatase. The CT findings put together with the typical clinical history and the normal blood test were a prerequisite for this diagnosis

  3. [Mayer-Rokitansky-Küster-Hauser syndrome: two cases report].

    Science.gov (United States)

    Ávila-Vergara, Marco Antonio; León-Álvarez, Damián Alfredo; López-Villegas, Miriam Nayeli; Quintero-Medrano, Samantha Melissa; Angulo-Bueno, Gladys Fabiola; Vadillo-Ortega, Felipe

    2015-03-01

    Agenesia of the Müllerian ducts is a low-frequency congenital disease but with devastating effects on women's reproductive health. In this paper we present two cases of women affected by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). First case was a 17-year-old woman with aplasia of the upper vagina and absence of uterus. No other defects were found and was classified as type 1-MRKH. Second case was 18-year-old woman with absence of uterus, escoliosis and polycystic ovary syndrome, classified as type II-MRKH. Patients were seen at the Hospital with primary amenorrhea and fully developed secondary sexual characteristics. A clinical follow-up protocol, including the use of high-resolution image studies was used for diagnosis. Diagnostic procedures and current medical approaches to the treatment of MRKH are discussed, including psychological advisory, surgical procedures and new tissue-engineering techniques.

  4. Eagle's syndrome: report of two cases using computed tomography

    International Nuclear Information System (INIS)

    Lee, Sul Mi; Kwon, Hyuk Rok; Choi, Hang Moon; Park, In Woo

    2002-01-01

    Two cases of Eagle's syndrome are reported. The first case involved a 31-year-old man who complained of pain in his throat and pain at preauricular area on turning his head. Panoramic and computed tomography (CT) views showed bilateral stylohyoid ligament ossification. The symptoms were relieved after surgical removal. The second case involved a 56-year-old female whose chief complaints were a continuous dull pain and occasional 'shooting' pain on lower left molar area. During the physical examination, an ossified stylohyoid ligament was palpated at the left submandibular area. Panoramic and CT images showed prominent bilateral stylohyoid ligament ossification. CT scans also showed hypertrophy of left medial and lateral pterygoid muscles. The symptoms were relieved after medication. CT is a useful tool for the examination of ossified stylohyoid ligaments and studying the relationship between Eagle's syndrome and adjacent soft tissue.

  5. Sirenomelia: The mermaid syndrome: Report of two cases

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth. PMID:25810681

  6. Sirenomelia: The mermaid syndrome: Report of two cases.

    Science.gov (United States)

    Samal, Sunil Kumar; Rathod, Setu

    2015-01-01

    Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth.

  7. Mazabraud's syndrome: case report and literature review

    International Nuclear Information System (INIS)

    Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents

    2013-01-01

    Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature

  8. Rare features associated with Mobius syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rumela Ghosh

    2017-03-01

    Full Text Available Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

  9. Joubert Syndrome: Imaging Features and Illustration of a Case

    International Nuclear Information System (INIS)

    Arora, Richa

    2014-01-01

    Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia, ataxia, nystagmus. We present another case of this uncommon syndrome in a 12 years old patient presenting with classical complaints of developmental delay, intellectual impairment, weakness in both lower limbs, ataxia and abnormal facies and diagnosed on Computed Tomography. Joubert Syndrome should be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities and developmental delay. Its neuroimaging hallmarks include molar tooth sign and batwing shaped fourth ventricle. As JS is associated with multiorgan involvement, these patients should enter a diagnostic protocol to assess systemic abnormalities. Extreme caution should be taken while administering drugs in these patients as they are prone to respiratory depression

  10. Cataract surgery in Knobloch syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Bongiovanni CS

    2011-06-01

    Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

  11. Early orthodontic management of Crouzon Syndrome: a case report.

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    Hlongwa, P

    2009-03-01

    Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.

  12. Equine metabolic syndrome in Colombian creole horse: case report

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    C.A. Castillo

    Full Text Available ABSTRACT The equine metabolic syndrome is a condition that can be recognized because of obesity, insulin resistance and laminitis. Genetic factors could play a role in the occurrence of this syndrome. Certain breeds such as ponies (including the South American creole horses have a lower sensibility to insulin and a higher prevalence of hyperinsulinemia. The environment and management conditions, such as overfeeding and lack of exercise are factors that bring a propensity for obesity. The adipose tissue works as an endocrine organ producing hormones (adipokines or adipocytokines that affect the horse´s metabolism. The objective of this report is to describe the first case report of a Colombian creole mare with a metabolic syndrome, diagnosed by means of the combined test of glucose-insulin and clinical signs. Early diagnosis of this entity and an adequate treatment are useful for improving the life and the zootechnical conditions of the patient.

  13. [Toxic-shock syndrome. Three cases (author's transl)].

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    Rapin, M; D'Enfert, J; Cabane, J

    1981-06-13

    Several cases of toxic shock syndrome (T.S.S) have been recently reported from the U.S.A. Clinical features of this new syndrome include fever, desquamative scarlatiniform rash, hypotension and involvement of central nervous system, liver, kidney and muscles. More than 90% of cases are women with staphylococcic vaginitis using tampons during menstruations. A toxin produced by staphylococcus aureus is thought to be the causative agent, because the germ has been isolated in local (vaginal, pharyngeal, subcutaneous or other sites) but not systemic (blood, cerebrospinal fluid) cultures. The mortality rate is 3-10%, and relapse can occur. We report the first three french cases of T.S.S.: a 17 year old girl with typical tampon-associated vaginitis, a 36 year old woman with a postoperative peritonitis and a 20 year old man with a popliteal abscess. Staphylococcus aureus of type I or IV was identified at the site of infection in all cases, but never in blood cultures. These three patients recovered with antistaphylococcic antibiotics and supportive therapy, but local treatment of infections seems to have been of utmost importance. These cases suggest that T.S.S. can occur with several staphylococcus serotypes and confirm that this syndrome is not always associated with tampons and vaginitis.

  14. Case definition for progressive multifocal leukoencephalopathy following treatment with monoclonal antibodies.

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    Mentzer, Dirk; Prestel, Jürgen; Adams, Ortwin; Gold, Ralf; Hartung, Hans-Peter; Hengel, Hartmut; Kieseier, Bernd C; Ludwig, Wolf-Dieter; Keller-Stanislawski, Brigitte

    2012-09-01

    Novel immunosuppressive/modulating therapies with monoclonal antibodies (MABs) have been associated with progressive multifocal leukoencephalopathy (PML), a potentially fatal disease of the brain caused by the JC virus. Taking the complex diagnostic testing and heterogeneous clinical presentation of PML into account, an agreed case definition for PML is a prerequisite for a thorough assessment of PML. A working group was established to develop a standardised case definition for PML which permits data comparability across clinical trials, postauthorisation safety studies and passive postmarketing surveillance. The case definition is designed to define levels of diagnostic certainty of reported PML cases following treatment with MABs. It was subsequently used to categorise retrospectively suspected PML cases from Germany reported to the Paul-Ehrlich-Institute as the responsible national competent authority. The algorithm of the case definition is based on clinical symptoms, PCR for JC virus DNA in cerebrospinal fluid, brain MRI, and brain biopsy/autopsy. The case definition was applied to 119 suspected cases of PML following treatment with MABs and is considered to be helpful for case ascertainment of suspected PML cases for various MABs covering a broad spectrum of indications. Even if the available information is not yet complete, the case definition provides a level of diagnostic certainty. The proposed case definition permits data comparability among different medicinal products and among active as well as passive surveillance settings. It may form a basis for meaningful risk analysis and communication for regulators and healthcare professionals.

  15. Evaluation of the WHO clinical case definition for pediatric HIV infection in Bloemfontein, South Africa.

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    van Gend, Christine L; Haadsma, Maaike L; Sauer, Pieter J J; Schoeman, Cornelius J

    2003-06-01

    The WHO clinical case definition for pediatric HIV infection has been designed to be used in countries where diagnostic laboratory resources are limited. We evaluated the WHO case definition to determine whether it is a useful instrument to discriminate between HIV-positive and HIV-negative children. In addition, clinical features not included in this case definition were recorded. We recorded clinical data from 300 consecutively admitted children in a state hospital in Bloemfontein, South Africa, and tested these children for HIV infection. A total of 222 children were included in the study; 69 children (31.1 per cent) were HIV positive. The sensitivity of the WHO case definition in this study was 14.5 per cent, the specificity was 98.6 per cent. Apart from weight loss and generalized dermatitis, the signs of the WHO case definition were significantly more often seen in HIV-positive than in HIV-negative children. Of the clinical signs not included in the WHO case definition, marasmus and hepatosplenomegaly especially occurred more frequently in HIV-positive children. Based on these findings we composed a new case definition consisting of four signs: marasmus, hepatosplenomegaly, oropharyngeal candidiasis, and generalized lymphadenopathy. HIV infection is suspected in a child presenting with at least two of these four signs. The sensitivity of this case definition was 63.2 per cent, the specificity was 96.0 per cent. We conclude that in this study the WHO case definition was not a useful instrument to discriminate between HIV-positive and HIV-negative children, mainly because its sensitivity was strikingly low. The simplified case definition we propose, proved to be more sensitive than the WHO case definition (63.2 vs. 14.5 per cent), whilst its specificity remained high.

  16. Reliability of case definitions for public health surveillance assessed by Round-Robin test methodology

    Directory of Open Access Journals (Sweden)

    Claus Hermann

    2006-05-01

    Full Text Available Abstract Background Case definitions have been recognized to be important elements of public health surveillance systems. They are to assure comparability and consistency of surveillance data and have crucial impact on the sensitivity and the positive predictive value of a surveillance system. The reliability of case definitions has rarely been investigated systematically. Methods We conducted a Round-Robin test by asking all 425 local health departments (LHD and the 16 state health departments (SHD in Germany to classify a selection of 68 case examples using case definitions. By multivariate analysis we investigated factors linked to classification agreement with a gold standard, which was defined by an expert panel. Results A total of 7870 classifications were done by 396 LHD (93% and all SHD. Reporting sensitivity was 90.0%, positive predictive value 76.6%. Polio case examples had the lowest reporting precision, salmonellosis case examples the highest (OR = 0.008; CI: 0.005–0.013. Case definitions with a check-list format of clinical criteria resulted in higher reporting precision than case definitions with a narrative description (OR = 3.08; CI: 2.47–3.83. Reporting precision was higher among SHD compared to LHD (OR = 1.52; CI: 1.14–2.02. Conclusion Our findings led to a systematic revision of the German case definitions and build the basis for general recommendations for the creation of case definitions. These include, among others, that testable yes/no criteria in a check-list format is likely to improve reliability, and that software used for data transmission should be designed in strict accordance with the case definitions. The findings of this study are largely applicable to case definitions in many other countries or international networks as they share the same structural and editorial characteristics of the case definitions evaluated in this study before their revision.

  17. Revision of clinical case definitions: influenza-like illness and severe acute respiratory infection

    Science.gov (United States)

    Qasmieh, Saba; Mounts, Anthony Wayne; Alexander, Burmaa; Besselaar, Terry; Briand, Sylvie; Brown, Caroline; Clark, Seth; Dueger, Erica; Gross, Diane; Hauge, Siri; Hirve, Siddhivinayak; Jorgensen, Pernille; Katz, Mark A; Mafi, Ali; Malik, Mamunur; McCarron, Margaret; Meerhoff, Tamara; Mori, Yuichiro; Mott, Joshua; Olivera, Maria Teresa da Costa; Ortiz, Justin R; Palekar, Rakhee; Rebelo-de-Andrade, Helena; Soetens, Loes; Yahaya, Ali Ahmed; Zhang, Wenqing; Vandemaele, Katelijn

    2018-01-01

    Abstract The formulation of accurate clinical case definitions is an integral part of an effective process of public health surveillance. Although such definitions should, ideally, be based on a standardized and fixed collection of defining criteria, they often require revision to reflect new knowledge of the condition involved and improvements in diagnostic testing. Optimal case definitions also need to have a balance of sensitivity and specificity that reflects their intended use. After the 2009–2010 H1N1 influenza pandemic, the World Health Organization (WHO) initiated a technical consultation on global influenza surveillance. This prompted improvements in the sensitivity and specificity of the case definition for influenza – i.e. a respiratory disease that lacks uniquely defining symptomology. The revision process not only modified the definition of influenza-like illness, to include a simplified list of the criteria shown to be most predictive of influenza infection, but also clarified the language used for the definition, to enhance interpretability. To capture severe cases of influenza that required hospitalization, a new case definition was also developed for severe acute respiratory infection in all age groups. The new definitions have been found to capture more cases without compromising specificity. Despite the challenge still posed in the clinical separation of influenza from other respiratory infections, the global use of the new WHO case definitions should help determine global trends in the characteristics and transmission of influenza viruses and the associated disease burden. PMID:29403115

  18. [Marfan syndrome and pregnancy. Apropos of 4 cases].

    Science.gov (United States)

    Lambaudie, E; Depret-Mosser, S; Occelli, B; Papageorgiou, T; Dognin, A; Bertrand, M; de Martinville, B; Codaccioni, X; Monnier, J C

    2002-01-01

    To create a follow-up protocol for pregnant patients with Marfan syndrome. We retrospectively reviewed the charts of patients who delivered in the Jeanne de Flandre University Hospital between June 1996 and June 1999. Four pregnant patients with Marfan syndrome were identified. Three of these patients had Bentall procedure. One of them had vaginal delivery and the two others underwent cesarean section. One of these two patients developed aortic valve thrombus at 14 weeks of amenorrhea. The fourth patient did not have surgery and had two vaginal deliveries. According to our results and after reviewing literature pregnant patients with Marfan syndrome were divided into two groups. The 1st group was comprised of patients who underwent Bentall procedure. The 2nd one was comprised of patients who did not undergo any surgical procedure. The possibility of vaginal delivery for patients who underwent Bentall procedure (one case) and the interest of Propanolol and anticoagulant treatment are emphasized. The multivariant approach of pregnant patients with Marfan syndrome is stressed out with special reference to the potential complications of this syndrome such as aortic dissection and to the problems related to the anticoagulant treatment.

  19. Sensitivity and Specificity of Suspected Case Definition Used during West Africa Ebola Epidemic.

    Science.gov (United States)

    Hsu, Christopher H; Champaloux, Steven W; Keïta, Sakoba; Martel, Lise; Bilivogui, Pepe; Knust, Barbara; McCollum, Andrea M

    2018-01-01

    Rapid early detection and control of Ebola virus disease (EVD) is contingent on accurate case definitions. Using an epidemic surveillance dataset from Guinea, we analyzed an EVD case definition developed by the World Health Organization (WHO) and used in Guinea. We used the surveillance dataset (March-October 2014; n = 2,847 persons) to identify patients who satisfied or did not satisfy case definition criteria. Laboratory confirmation determined cases from noncases, and we calculated sensitivity, specificity and predictive values. The sensitivity of the defintion was 68.9%, and the specificity of the definition was 49.6%. The presence of epidemiologic risk factors (i.e., recent contact with a known or suspected EVD case-patient) had the highest sensitivity (74.7%), and unexplained deaths had the highest specificity (92.8%). Results for case definition analyses were statistically significant (pdefinition used in Guinea contributed to improved overall sensitivity and specificity.

  20. A re-audit of the use of definitions of sudden infant death syndrome (SIDS) in peer-reviewed literature.

    Science.gov (United States)

    Byard, Roger W; Lee, Vivian

    2012-11-01

    The use of different definitions of sudden infant death syndrome (SIDS) may make comparison of data among studies difficult. Fifty randomly selected papers dealing with SIDS that were published between 2010 and 2011 in peer-reviewed journals were reviewed to determine whether one of three internationally accepted definitions of SIDS had been either written in the text or referenced. A significant improvement in the use of definitions has occurred since 2005, with the percentage of papers either quoting or referencing a standard definition increasing by 26%, from 42 to 68%. The 1989 NICHD definition remained the most commonly used definition (35.1%) followed by the 2004 San Diego definition (26.3%). Although the percentage of papers where either no definition was provided or where an idiosyncratic or mis-cited definition was used fell 26%, from 58 to 32%, nearly one in three papers published on SIDS in peer-reviewed journals that were included in this study still did not cite a standard definition. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.